Canonical Allele Identifier: CA384888784
Gene: SCN8A HGNC NCBI

Linked Data

dbSNP Id: rs1209537535
gnomAD v3: 12-51807199-G-T
gnomAD v4: 12-51807199-G-T
MyVariant Identifiers: chr12:g.52200983G>T (hg19) chr12:g.51807199G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51807199G>T , CM000674.2:g.51807199G>T GRCh38
NC_000012.11:g.52200983G>T , CM000674.1:g.52200983G>T GRCh37
NC_000012.10:g.50487250G>T NCBI36
NG_021180.2:g.220964G>T
NG_021180.3:g.222242G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354534.11:c.5713G>T MANE Plus Clinical ENSP00000346534.4:p.Ala1905Ser
ENST00000627620.5:c.5713G>T MANE Select ENSP00000487583.2:p.Ala1905Ser
ENST00000662684.1:c.5713G>T ENSP00000499636.1:p.Ala1905Ser
ENST00000668547.1:c.5590G>T ENSP00000499691.1:p.Ala1864Ser
ENST00000354534.10:c.5713G>T ENSP00000346534.4:p.Ala1905Ser
ENST00000355133.7:c.5590G>T ENSP00000347255.4:p.Ala1864Ser
ENST00000545061.5:c.5590G>T ENSP00000440360.1:p.Ala1864Ser
ENST00000599343.5:c.5746G>T ENSP00000476447.3:p.Ala1916Ser
ENST00000627620.2:c.5713G>T ENSP00000487583.1:p.Ala1905Ser
NM_001177984.2:c.5590G>T NP_001171455.1:p.Ala1864Ser
NM_014191.3:c.5713G>T NP_055006.1:p.Ala1905Ser
XM_006719556.2:c.5713G>T XP_006719619.1:p.Ala1905Ser
XM_011538650.1:c.5713G>T XP_011536952.1:p.Ala1905Ser
XM_011538651.1:c.5713G>T XP_011536953.1:p.Ala1905Ser
NM_001330260.1:c.5713G>T NP_001317189.1:p.Ala1905Ser
XM_006719556.4:c.5713G>T XP_006719619.1:p.Ala1905Ser
XM_011538651.3:c.5713G>T XP_011536953.1:p.Ala1905Ser
XM_017019794.2:c.5713G>T XP_016875283.1:p.Ala1905Ser
XM_017019795.2:c.5590G>T XP_016875284.1:p.Ala1864Ser
NM_001330260.2:c.5713G>T MANE Select NP_001317189.1:p.Ala1905Ser
NM_001369788.1:c.5590G>T NP_001356717.1:p.Ala1864Ser
NM_014191.4:c.5713G>T MANE Plus Clinical NP_055006.1:p.Ala1905Ser
NM_001177984.3:c.5590G>T NP_001171455.1:p.Ala1864Ser
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