Canonical Allele Identifier: CA367398969

Gene: GCK

Linked Data

• dbSNP Id: rs1372420759
• gnomAD v2: 7-44185243-C-T
• gnomAD v4: 7-44145644-C-T
• MyVariant Identifiers: chr7:g.44185243C>T (hg19) ; chr7:g.44145644C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145644C>T , CM000669.2:g.44145644C>T	GRCh38
NC_000007.13:g.44185243C>T , CM000669.1:g.44185243C>T	GRCh37
NC_000007.12:g.44151768C>T	NCBI36
NG_008847.1:g.48780G>A
NG_008847.2:g.57527G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1104G>A	ENSP00000379142.4:n.*1104G>A
ENST00000616242.5:c.*226G>A	ENSP00000482149.2:n.*226G>A
ENST00000683378.1:n.332G>A
ENST00000336642.9:c.140G>A	ENSP00000338009.5:p.Arg47His
ENST00000345378.7:c.1109G>A	ENSP00000223366.2:p.Arg370His
ENST00000403799.8:c.1106G>A MANE Select	ENSP00000384247.3:p.Arg369His
ENST00000671824.1:c.1169G>A	ENSP00000500264.1:p.Arg390His
ENST00000672743.1:n.118G>A
ENST00000673284.1:c.1106G>A	ENSP00000499852.1:p.Arg369His
ENST00000336642.8:c.158G>A	ENSP00000338009.4:p.Arg53His
ENST00000345378.6:c.1109G>A	ENSP00000223366.2:p.Arg370His
ENST00000395796.7:c.1103G>A	ENSP00000379142.3:p.Arg368His
ENST00000403799.7:c.1106G>A	ENSP00000384247.3:p.Arg369His
ENST00000437084.1:c.1055G>A	ENSP00000402840.1:p.Arg352His
ENST00000459642.1:n.486G>A
ENST00000473353.1:n.404G>A
ENST00000616242.4:c.1103G>A	ENSP00000482149.1:p.Arg368His
NM_000162.3:c.1106G>A	NP_000153.1:p.Arg369His
NM_033507.1:c.1109G>A	NP_277042.1:p.Arg370His
NM_033508.1:c.1103G>A	NP_277043.1:p.Arg368His
NM_000162.4:c.1106G>A	NP_000153.1:p.Arg369His
NM_001354800.1:c.1106G>A	NP_001341729.1:p.Arg369His
NM_001354801.1:c.95G>A	NP_001341730.1:p.Arg32His
NM_001354802.1:c.-35G>A	NP_001341731.1:n.-35G>A
NM_001354803.1:c.140G>A	NP_001341732.1:p.Arg47His
NM_033507.2:c.1109G>A	NP_277042.1:p.Arg370His
NM_033508.2:c.1103G>A	NP_277043.1:p.Arg368His
XM_024446707.1:c.-35G>A	XP_024302475.1:n.-35G>A
NM_000162.5:c.1106G>A MANE Select	NP_000153.1:p.Arg369His
NM_033507.3:c.1109G>A	NP_277042.1:p.Arg370His
NM_033508.3:c.1103G>A	NP_277043.1:p.Arg368His
NM_001354803.2:c.140G>A	NP_001341732.1:p.Arg47His