Canonical Allele Identifier: CA367400470
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44147684-C-A
MyVariant Identifiers: chr7:g.44187283C>A (hg19) chr7:g.44147684C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147684C>A , CM000669.2:g.44147684C>A GRCh38
NC_000007.13:g.44187283C>A , CM000669.1:g.44187283C>A GRCh37
NC_000007.12:g.44153808C>A NCBI36
NG_008847.1:g.46740G>T
NG_008847.2:g.55487G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*827G>T ENSP00000379142.4:n.*827G>T
ENST00000616242.5:c.829G>T ENSP00000482149.2:p.Val277Leu
ENST00000345378.7:c.832G>T ENSP00000223366.2:p.Val278Leu
ENST00000403799.8:c.829G>T MANE Select ENSP00000384247.3:p.Val277Leu
ENST00000671824.1:c.829G>T ENSP00000500264.1:p.Val277Leu
ENST00000673284.1:c.829G>T ENSP00000499852.1:p.Val277Leu
ENST00000345378.6:c.832G>T ENSP00000223366.2:p.Val278Leu
ENST00000395796.7:c.826G>T ENSP00000379142.3:p.Val276Leu
ENST00000403799.7:c.829G>T ENSP00000384247.3:p.Val277Leu
ENST00000437084.1:c.778G>T ENSP00000402840.1:p.Val260Leu
ENST00000616242.4:c.826G>T ENSP00000482149.1:p.Val276Leu
NM_000162.3:c.829G>T NP_000153.1:p.Val277Leu
NM_033507.1:c.832G>T NP_277042.1:p.Val278Leu
NM_033508.1:c.826G>T NP_277043.1:p.Val276Leu
XR_927223.1:n.18C>A
NM_000162.4:c.829G>T NP_000153.1:p.Val277Leu
NM_001354800.1:c.829G>T NP_001341729.1:p.Val277Leu
NM_033507.2:c.832G>T NP_277042.1:p.Val278Leu
NM_033508.2:c.826G>T NP_277043.1:p.Val276Leu
XR_927223.2:n.18C>A
NM_000162.5:c.829G>T MANE Select NP_000153.1:p.Val277Leu
NM_033507.3:c.832G>T NP_277042.1:p.Val278Leu
NM_033508.3:c.826G>T NP_277043.1:p.Val276Leu
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