Canonical Allele Identifier: CA4239388

Gene: GCK

Linked Data

• dbSNP Id: rs776620750
• ExAC: 7:44184861 A / G
• gnomAD v2: 7-44184861-A-G
• MyVariant Identifiers: chr7:g.44184861A>G (hg19) ; chr7:g.44145262A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145262A>G , CM000669.2:g.44145262A>G	GRCh38
NC_000007.13:g.44184861A>G , CM000669.1:g.44184861A>G	GRCh37
NC_000007.12:g.44151386A>G	NCBI36
NG_008847.1:g.49162T>C
NG_008847.2:g.57909T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1270T>C	ENSP00000379142.4:n.*1270T>C
ENST00000616242.5:c.*392T>C	ENSP00000482149.2:n.*392T>C
ENST00000683378.1:n.498T>C
ENST00000336642.9:c.306T>C	ENSP00000338009.5:p.His102=
ENST00000345378.7:c.1275T>C	ENSP00000223366.2:p.His425=
ENST00000403799.8:c.1272T>C MANE Select	ENSP00000384247.3:p.His424=
ENST00000671824.1:c.1335T>C	ENSP00000500264.1:p.His445=
ENST00000672743.1:n.284T>C
ENST00000673284.1:c.1272T>C	ENSP00000499852.1:p.His424=
ENST00000336642.8:c.324T>C	ENSP00000338009.4:p.His108=
ENST00000345378.6:c.1275T>C	ENSP00000223366.2:p.His425=
ENST00000395796.7:c.1269T>C	ENSP00000379142.3:p.His423=
ENST00000403799.7:c.1272T>C	ENSP00000384247.3:p.His424=
ENST00000437084.1:c.1221T>C	ENSP00000402840.1:p.His407=
ENST00000459642.1:n.652T>C
ENST00000616242.4:c.1269T>C	ENSP00000482149.1:p.His423=
NM_000162.3:c.1272T>C	NP_000153.1:p.His424=
NM_033507.1:c.1275T>C	NP_277042.1:p.His425=
NM_033508.1:c.1269T>C	NP_277043.1:p.His423=
NM_000162.4:c.1272T>C	NP_000153.1:p.His424=
NM_001354800.1:c.1272T>C	NP_001341729.1:p.His424=
NM_001354801.1:c.261T>C	NP_001341730.1:p.His87=
NM_001354802.1:c.132T>C	NP_001341731.1:p.His44=
NM_001354803.1:c.306T>C	NP_001341732.1:p.His102=
NM_033507.2:c.1275T>C	NP_277042.1:p.His425=
NM_033508.2:c.1269T>C	NP_277043.1:p.His423=
XM_024446707.1:c.132T>C	XP_024302475.1:p.His44=
NM_000162.5:c.1272T>C MANE Select	NP_000153.1:p.His424=
NM_033507.3:c.1275T>C	NP_277042.1:p.His425=
NM_033508.3:c.1269T>C	NP_277043.1:p.His423=
NM_001354803.2:c.306T>C	NP_001341732.1:p.His102=