Canonical Allele Identifier: CA367397208

Gene: GCK

Linked Data

• gnomAD v4: 7-44145255-C-T
• MyVariant Identifiers: chr7:g.44184854C>T (hg19) ; chr7:g.44145255C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145255C>T , CM000669.2:g.44145255C>T	GRCh38
NC_000007.13:g.44184854C>T , CM000669.1:g.44184854C>T	GRCh37
NC_000007.12:g.44151379C>T	NCBI36
NG_008847.1:g.49169G>A
NG_008847.2:g.57916G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1277G>A	ENSP00000379142.4:n.*1277G>A
ENST00000616242.5:c.*399G>A	ENSP00000482149.2:n.*399G>A
ENST00000683378.1:n.505G>A
ENST00000336642.9:c.313G>A	ENSP00000338009.5:p.Val105Met
ENST00000345378.7:c.1282G>A	ENSP00000223366.2:p.Val428Met
ENST00000403799.8:c.1279G>A MANE Select	ENSP00000384247.3:p.Val427Met
ENST00000671824.1:c.1342G>A	ENSP00000500264.1:p.Val448Met
ENST00000672743.1:n.291G>A
ENST00000673284.1:c.1279G>A	ENSP00000499852.1:p.Val427Met
ENST00000336642.8:c.331G>A	ENSP00000338009.4:p.Val111Met
ENST00000345378.6:c.1282G>A	ENSP00000223366.2:p.Val428Met
ENST00000395796.7:c.1276G>A	ENSP00000379142.3:p.Val426Met
ENST00000403799.7:c.1279G>A	ENSP00000384247.3:p.Val427Met
ENST00000437084.1:c.1228G>A	ENSP00000402840.1:p.Val410Met
ENST00000459642.1:n.659G>A
ENST00000616242.4:c.1276G>A	ENSP00000482149.1:p.Val426Met
NM_000162.3:c.1279G>A	NP_000153.1:p.Val427Met
NM_033507.1:c.1282G>A	NP_277042.1:p.Val428Met
NM_033508.1:c.1276G>A	NP_277043.1:p.Val426Met
NM_000162.4:c.1279G>A	NP_000153.1:p.Val427Met
NM_001354800.1:c.1279G>A	NP_001341729.1:p.Val427Met
NM_001354801.1:c.268G>A	NP_001341730.1:p.Val90Met
NM_001354802.1:c.139G>A	NP_001341731.1:p.Val47Met
NM_001354803.1:c.313G>A	NP_001341732.1:p.Val105Met
NM_033507.2:c.1282G>A	NP_277042.1:p.Val428Met
NM_033508.2:c.1276G>A	NP_277043.1:p.Val426Met
XM_024446707.1:c.139G>A	XP_024302475.1:p.Val47Met
NM_000162.5:c.1279G>A MANE Select	NP_000153.1:p.Val427Met
NM_033507.3:c.1282G>A	NP_277042.1:p.Val428Met
NM_033508.3:c.1276G>A	NP_277043.1:p.Val426Met
NM_001354803.2:c.313G>A	NP_001341732.1:p.Val105Met