Canonical Allele Identifier: CA349042284
Community Standard Title: NM_006922.4(SCN3A):c.2888T>G (p.Val963Gly)
Gene: SCN3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165129974A>C , CM000664.2:g.165129974A>C GRCh38
NC_000002.11:g.165986484A>C , CM000664.1:g.165986484A>C GRCh37
NC_000002.10:g.165694730A>C NCBI36
NG_042289.1:g.79115T>G

Transcript Alleles

HGVS Amino-acid Change
NM_006922.4:c.2888T>G MANE Select NP_008853.3:p.Val963Gly
ENST00000283254.12:c.2888T>G MANE Select ENSP00000283254.7:p.Val963Gly
NM_001081676.1:c.2741T>G NP_001075145.1:p.Val914Gly
NM_001081676.2:c.2741T>G NP_001075145.1:p.Val914Gly
NM_001081677.1:c.2741T>G NP_001075146.1:p.Val914Gly
NM_001081677.2:c.2741T>G NP_001075146.1:p.Val914Gly
NM_006922.3:c.2888T>G NP_008853.3:p.Val963Gly
ENST00000283254.11:c.2888T>G ENSP00000283254.7:p.Val963Gly
ENST00000360093.7:c.2888T>G ENSP00000353206.3:p.Val963Gly
ENST00000409101.7:c.2741T>G ENSP00000386726.3:p.Val914Gly
ENST00000440431.6:c.2741T>G ENSP00000403348.1:p.Val914Gly
ENST00000638473.1:c.*729T>G ENSP00000491552.1:n.*729T>G
ENST00000639244.1:c.2837T>G ENSP00000492251.1:p.Val946Gly
ENST00000640652.1:c.2837T>G ENSP00000492807.1:p.Val946Gly
ENST00000658209.1:c.986T>G ENSP00000499598.1:p.Val329Gly
ENST00000668657.1:c.2750T>G ENSP00000499420.1:p.Val917Gly
ENST00000706067.1:c.2837T>G ENSP00000516211.1:p.Val946Gly
XM_006712679.1:c.2888T>G XP_006712742.1:p.Val963Gly
XM_011511610.1:c.2888T>G XP_011509912.1:p.Val963Gly
XM_011511610.3:c.2888T>G XP_011509912.1:p.Val963Gly
XM_011511611.1:c.2888T>G XP_011509913.1:p.Val963Gly
XM_011511612.1:c.2837T>G XP_011509914.1:p.Val946Gly
XM_011511613.1:c.998T>G XP_011509915.1:p.Val333Gly
XM_011511613.3:c.998T>G XP_011509915.1:p.Val333Gly
XM_011511614.1:c.2888T>G XP_011509916.1:p.Val963Gly
XM_017004660.2:c.2888T>G XP_016860149.1:p.Val963Gly
XM_017004661.2:c.2837T>G XP_016860150.1:p.Val946Gly
XM_017004662.2:c.2750T>G XP_016860151.1:p.Val917Gly
XM_017004663.2:c.998T>G XP_016860152.1:p.Val333Gly
XM_017004664.1:c.2888T>G XP_016860153.1:p.Val963Gly
XM_017004665.1:c.2750T>G XP_016860154.1:p.Val917Gly
XM_017004666.1:c.2741T>G XP_016860155.1:p.Val914Gly