Canonical Allele Identifier: CA367401998
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2740810
ClinVar RCV Id: RCV003575875
MyVariant Identifiers: chr7:g.44190608G>C (hg19) chr7:g.44151009G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44151009G>C , CM000669.2:g.44151009G>C GRCh38
NC_000007.13:g.44190608G>C , CM000669.1:g.44190608G>C GRCh37
NC_000007.12:g.44157133G>C NCBI36
NG_008847.1:g.43415C>G
NG_008847.2:g.52162C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*428C>G ENSP00000379142.4:n.*428C>G
ENST00000616242.5:c.430C>G ENSP00000482149.2:p.Leu144Val
ENST00000682635.1:n.916C>G
ENST00000345378.7:c.433C>G ENSP00000223366.2:p.Leu145Val
ENST00000403799.8:c.430C>G MANE Select ENSP00000384247.3:p.Leu144Val
ENST00000671824.1:c.430C>G ENSP00000500264.1:p.Leu144Val
ENST00000673284.1:c.430C>G ENSP00000499852.1:p.Leu144Val
ENST00000345378.6:c.433C>G ENSP00000223366.2:p.Leu145Val
ENST00000395796.7:c.427C>G ENSP00000379142.3:p.Leu143Val
ENST00000403799.7:c.430C>G ENSP00000384247.3:p.Leu144Val
ENST00000437084.1:c.379C>G ENSP00000402840.1:p.Leu127Val
ENST00000616242.4:c.427C>G ENSP00000482149.1:p.Leu143Val
NM_000162.3:c.430C>G NP_000153.1:p.Leu144Val
NM_033507.1:c.433C>G NP_277042.1:p.Leu145Val
NM_033508.1:c.427C>G NP_277043.1:p.Leu143Val
NM_000162.4:c.430C>G NP_000153.1:p.Leu144Val
NM_001354800.1:c.430C>G NP_001341729.1:p.Leu144Val
NM_033507.2:c.433C>G NP_277042.1:p.Leu145Val
NM_033508.2:c.427C>G NP_277043.1:p.Leu143Val
NM_000162.5:c.430C>G MANE Select NP_000153.1:p.Leu144Val
NM_033507.3:c.433C>G NP_277042.1:p.Leu145Val
NM_033508.3:c.427C>G NP_277043.1:p.Leu143Val
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