Canonical Allele Identifier: CA367396855

Gene: GCK

Linked Data

• gnomAD v4: 7-44145170-A-G
• MyVariant Identifiers: chr7:g.44184769A>G (hg19) ; chr7:g.44145170A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145170A>G , CM000669.2:g.44145170A>G	GRCh38
NC_000007.13:g.44184769A>G , CM000669.1:g.44184769A>G	GRCh37
NC_000007.12:g.44151294A>G	NCBI36
NG_008847.1:g.49254T>C
NG_008847.2:g.58001T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1362T>C	ENSP00000379142.4:n.*1362T>C
ENST00000616242.5:c.*484T>C	ENSP00000482149.2:n.*484T>C
ENST00000683378.1:n.590T>C
ENST00000336642.9:c.398T>C	ENSP00000338009.5:p.Val133Ala
ENST00000345378.7:c.1367T>C	ENSP00000223366.2:p.Val456Ala
ENST00000403799.8:c.1364T>C MANE Select	ENSP00000384247.3:p.Val455Ala
ENST00000671824.1:c.1427T>C	ENSP00000500264.1:p.Val476Ala
ENST00000672743.1:n.376T>C
ENST00000673284.1:c.1364T>C	ENSP00000499852.1:p.Val455Ala
ENST00000336642.8:c.416T>C	ENSP00000338009.4:p.Val139Ala
ENST00000345378.6:c.1367T>C	ENSP00000223366.2:p.Val456Ala
ENST00000395796.7:c.1361T>C	ENSP00000379142.3:p.Val454Ala
ENST00000403799.7:c.1364T>C	ENSP00000384247.3:p.Val455Ala
ENST00000437084.1:c.1313T>C	ENSP00000402840.1:p.Val438Ala
ENST00000459642.1:n.744T>C
ENST00000616242.4:c.1361T>C	ENSP00000482149.1:p.Val454Ala
NM_000162.3:c.1364T>C	NP_000153.1:p.Val455Ala
NM_033507.1:c.1367T>C	NP_277042.1:p.Val456Ala
NM_033508.1:c.1361T>C	NP_277043.1:p.Val454Ala
NM_000162.4:c.1364T>C	NP_000153.1:p.Val455Ala
NM_001354800.1:c.1364T>C	NP_001341729.1:p.Val455Ala
NM_001354801.1:c.353T>C	NP_001341730.1:p.Val118Ala
NM_001354802.1:c.224T>C	NP_001341731.1:p.Val75Ala
NM_001354803.1:c.398T>C	NP_001341732.1:p.Val133Ala
NM_033507.2:c.1367T>C	NP_277042.1:p.Val456Ala
NM_033508.2:c.1361T>C	NP_277043.1:p.Val454Ala
XM_024446707.1:c.224T>C	XP_024302475.1:p.Val75Ala
NM_000162.5:c.1364T>C MANE Select	NP_000153.1:p.Val455Ala
NM_033507.3:c.1367T>C	NP_277042.1:p.Val456Ala
NM_033508.3:c.1361T>C	NP_277043.1:p.Val454Ala
NM_001354803.2:c.398T>C	NP_001341732.1:p.Val133Ala