Canonical Allele Identifier: CA367400472

Gene: GCK

Linked Data

• gnomAD v4: 7-44147684-C-T
• MyVariant Identifiers: chr7:g.44187283C>T (hg19) ; chr7:g.44147684C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*827G>A	ENSP00000379142.4:n.*827G>A
ENST00000616242.5:c.829G>A	ENSP00000482149.2:p.Val277Met
ENST00000345378.7:c.832G>A	ENSP00000223366.2:p.Val278Met
ENST00000403799.8:c.829G>A MANE Select	ENSP00000384247.3:p.Val277Met
ENST00000671824.1:c.829G>A	ENSP00000500264.1:p.Val277Met
ENST00000673284.1:c.829G>A	ENSP00000499852.1:p.Val277Met
ENST00000345378.6:c.832G>A	ENSP00000223366.2:p.Val278Met
ENST00000395796.7:c.826G>A	ENSP00000379142.3:p.Val276Met
ENST00000403799.7:c.829G>A	ENSP00000384247.3:p.Val277Met
ENST00000437084.1:c.778G>A	ENSP00000402840.1:p.Val260Met
ENST00000616242.4:c.826G>A	ENSP00000482149.1:p.Val276Met
NM_000162.3:c.829G>A	NP_000153.1:p.Val277Met
NM_033507.1:c.832G>A	NP_277042.1:p.Val278Met
NM_033508.1:c.826G>A	NP_277043.1:p.Val276Met
XR_927223.1:n.18C>T
NM_000162.4:c.829G>A	NP_000153.1:p.Val277Met
NM_001354800.1:c.829G>A	NP_001341729.1:p.Val277Met
NM_033507.2:c.832G>A	NP_277042.1:p.Val278Met
NM_033508.2:c.826G>A	NP_277043.1:p.Val276Met
XR_927223.2:n.18C>T
NM_000162.5:c.829G>A MANE Select	NP_000153.1:p.Val277Met
NM_033507.3:c.832G>A	NP_277042.1:p.Val278Met
NM_033508.3:c.826G>A	NP_277043.1:p.Val276Met