Canonical Allele Identifier: CA367396892

Gene: GCK

Linked Data

• gnomAD v4: 7-44145180-C-T
• MyVariant Identifiers: chr7:g.44184779C>T (hg19) ; chr7:g.44145180C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145180C>T , CM000669.2:g.44145180C>T	GRCh38
NC_000007.13:g.44184779C>T , CM000669.1:g.44184779C>T	GRCh37
NC_000007.12:g.44151304C>T	NCBI36
NG_008847.1:g.49244G>A
NG_008847.2:g.57991G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1352G>A	ENSP00000379142.4:n.*1352G>A
ENST00000616242.5:c.*474G>A	ENSP00000482149.2:n.*474G>A
ENST00000683378.1:n.580G>A
ENST00000336642.9:c.388G>A	ENSP00000338009.5:p.Val130Ile
ENST00000345378.7:c.1357G>A	ENSP00000223366.2:p.Val453Ile
ENST00000403799.8:c.1354G>A MANE Select	ENSP00000384247.3:p.Val452Ile
ENST00000671824.1:c.1417G>A	ENSP00000500264.1:p.Val473Ile
ENST00000672743.1:n.366G>A
ENST00000673284.1:c.1354G>A	ENSP00000499852.1:p.Val452Ile
ENST00000336642.8:c.406G>A	ENSP00000338009.4:p.Val136Ile
ENST00000345378.6:c.1357G>A	ENSP00000223366.2:p.Val453Ile
ENST00000395796.7:c.1351G>A	ENSP00000379142.3:p.Val451Ile
ENST00000403799.7:c.1354G>A	ENSP00000384247.3:p.Val452Ile
ENST00000437084.1:c.1303G>A	ENSP00000402840.1:p.Val435Ile
ENST00000459642.1:n.734G>A
ENST00000616242.4:c.1351G>A	ENSP00000482149.1:p.Val451Ile
NM_000162.3:c.1354G>A	NP_000153.1:p.Val452Ile
NM_033507.1:c.1357G>A	NP_277042.1:p.Val453Ile
NM_033508.1:c.1351G>A	NP_277043.1:p.Val451Ile
NM_000162.4:c.1354G>A	NP_000153.1:p.Val452Ile
NM_001354800.1:c.1354G>A	NP_001341729.1:p.Val452Ile
NM_001354801.1:c.343G>A	NP_001341730.1:p.Val115Ile
NM_001354802.1:c.214G>A	NP_001341731.1:p.Val72Ile
NM_001354803.1:c.388G>A	NP_001341732.1:p.Val130Ile
NM_033507.2:c.1357G>A	NP_277042.1:p.Val453Ile
NM_033508.2:c.1351G>A	NP_277043.1:p.Val451Ile
XM_024446707.1:c.214G>A	XP_024302475.1:p.Val72Ile
NM_000162.5:c.1354G>A MANE Select	NP_000153.1:p.Val452Ile
NM_033507.3:c.1357G>A	NP_277042.1:p.Val453Ile
NM_033508.3:c.1351G>A	NP_277043.1:p.Val451Ile
NM_001354803.2:c.388G>A	NP_001341732.1:p.Val130Ile