Canonical Allele Identifier: CA367396916

Gene: GCK

Linked Data

• dbSNP Id: rs1291985685
• gnomAD v2: 7-44184787-G-A
• gnomAD v4: 7-44145188-G-A
• MyVariant Identifiers: chr7:g.44184787G>A (hg19) ; chr7:g.44145188G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145188G>A , CM000669.2:g.44145188G>A	GRCh38
NC_000007.13:g.44184787G>A , CM000669.1:g.44184787G>A	GRCh37
NC_000007.12:g.44151312G>A	NCBI36
NG_008847.1:g.49236C>T
NG_008847.2:g.57983C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1344C>T	ENSP00000379142.4:n.*1344C>T
ENST00000616242.5:c.*466C>T	ENSP00000482149.2:n.*466C>T
ENST00000683378.1:n.572C>T
ENST00000336642.9:c.380C>T	ENSP00000338009.5:p.Ala127Val
ENST00000345378.7:c.1349C>T	ENSP00000223366.2:p.Ala450Val
ENST00000403799.8:c.1346C>T MANE Select	ENSP00000384247.3:p.Ala449Val
ENST00000671824.1:c.1409C>T	ENSP00000500264.1:p.Ala470Val
ENST00000672743.1:n.358C>T
ENST00000673284.1:c.1346C>T	ENSP00000499852.1:p.Ala449Val
ENST00000336642.8:c.398C>T	ENSP00000338009.4:p.Ala133Val
ENST00000345378.6:c.1349C>T	ENSP00000223366.2:p.Ala450Val
ENST00000395796.7:c.1343C>T	ENSP00000379142.3:p.Ala448Val
ENST00000403799.7:c.1346C>T	ENSP00000384247.3:p.Ala449Val
ENST00000437084.1:c.1295C>T	ENSP00000402840.1:p.Ala432Val
ENST00000459642.1:n.726C>T
ENST00000616242.4:c.1343C>T	ENSP00000482149.1:p.Ala448Val
NM_000162.3:c.1346C>T	NP_000153.1:p.Ala449Val
NM_033507.1:c.1349C>T	NP_277042.1:p.Ala450Val
NM_033508.1:c.1343C>T	NP_277043.1:p.Ala448Val
NM_000162.4:c.1346C>T	NP_000153.1:p.Ala449Val
NM_001354800.1:c.1346C>T	NP_001341729.1:p.Ala449Val
NM_001354801.1:c.335C>T	NP_001341730.1:p.Ala112Val
NM_001354802.1:c.206C>T	NP_001341731.1:p.Ala69Val
NM_001354803.1:c.380C>T	NP_001341732.1:p.Ala127Val
NM_033507.2:c.1349C>T	NP_277042.1:p.Ala450Val
NM_033508.2:c.1343C>T	NP_277043.1:p.Ala448Val
XM_024446707.1:c.206C>T	XP_024302475.1:p.Ala69Val
NM_000162.5:c.1346C>T MANE Select	NP_000153.1:p.Ala449Val
NM_033507.3:c.1349C>T	NP_277042.1:p.Ala450Val
NM_033508.3:c.1343C>T	NP_277043.1:p.Ala448Val
NM_001354803.2:c.380C>T	NP_001341732.1:p.Ala127Val