Canonical Allele Identifier: CA367398980

Gene: GCK

Linked Data

• gnomAD v4: 7-44145647-C-T
• MyVariant Identifiers: chr7:g.44185246C>T (hg19) ; chr7:g.44145647C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145647C>T , CM000669.2:g.44145647C>T	GRCh38
NC_000007.13:g.44185246C>T , CM000669.1:g.44185246C>T	GRCh37
NC_000007.12:g.44151771C>T	NCBI36
NG_008847.1:g.48777G>A
NG_008847.2:g.57524G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1101G>A	ENSP00000379142.4:n.*1101G>A
ENST00000616242.5:c.*223G>A	ENSP00000482149.2:n.*223G>A
ENST00000683378.1:n.329G>A
ENST00000336642.9:c.137G>A	ENSP00000338009.5:p.Arg46His
ENST00000345378.7:c.1106G>A	ENSP00000223366.2:p.Arg369His
ENST00000403799.8:c.1103G>A MANE Select	ENSP00000384247.3:p.Arg368His
ENST00000671824.1:c.1166G>A	ENSP00000500264.1:p.Arg389His
ENST00000672743.1:n.115G>A
ENST00000673284.1:c.1103G>A	ENSP00000499852.1:p.Arg368His
ENST00000336642.8:c.155G>A	ENSP00000338009.4:p.Arg52His
ENST00000345378.6:c.1106G>A	ENSP00000223366.2:p.Arg369His
ENST00000395796.7:c.1100G>A	ENSP00000379142.3:p.Arg367His
ENST00000403799.7:c.1103G>A	ENSP00000384247.3:p.Arg368His
ENST00000437084.1:c.1052G>A	ENSP00000402840.1:p.Arg351His
ENST00000459642.1:n.483G>A
ENST00000473353.1:n.401G>A
ENST00000616242.4:c.1100G>A	ENSP00000482149.1:p.Arg367His
NM_000162.3:c.1103G>A	NP_000153.1:p.Arg368His
NM_033507.1:c.1106G>A	NP_277042.1:p.Arg369His
NM_033508.1:c.1100G>A	NP_277043.1:p.Arg367His
NM_000162.4:c.1103G>A	NP_000153.1:p.Arg368His
NM_001354800.1:c.1103G>A	NP_001341729.1:p.Arg368His
NM_001354801.1:c.92G>A	NP_001341730.1:p.Arg31His
NM_001354802.1:c.-38G>A	NP_001341731.1:n.-38G>A
NM_001354803.1:c.137G>A	NP_001341732.1:p.Arg46His
NM_033507.2:c.1106G>A	NP_277042.1:p.Arg369His
NM_033508.2:c.1100G>A	NP_277043.1:p.Arg367His
XM_024446707.1:c.-38G>A	XP_024302475.1:n.-38G>A
NM_000162.5:c.1103G>A MANE Select	NP_000153.1:p.Arg368His
NM_033507.3:c.1106G>A	NP_277042.1:p.Arg369His
NM_033508.3:c.1100G>A	NP_277043.1:p.Arg367His
NM_001354803.2:c.137G>A	NP_001341732.1:p.Arg46His