Canonical Allele Identifier: CA4239480

Gene: GCK

Linked Data

• dbSNP Id: rs758407777
• ExAC: 7:44186139 C / G
• gnomAD v2: 7-44186139-C-G
• MyVariant Identifiers: chr7:g.44186139C>G (hg19) ; chr7:g.44146540C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146540C>G , CM000669.2:g.44146540C>G	GRCh38
NC_000007.13:g.44186139C>G , CM000669.1:g.44186139C>G	GRCh37
NC_000007.12:g.44152664C>G	NCBI36
NG_008847.1:g.47884G>C
NG_008847.2:g.56631G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*940G>C	ENSP00000379142.4:n.*940G>C
ENST00000616242.5:c.*62G>C	ENSP00000482149.2:n.*62G>C
ENST00000683378.1:n.168G>C
ENST00000345378.7:c.945G>C	ENSP00000223366.2:p.Leu315=
ENST00000403799.8:c.942G>C MANE Select	ENSP00000384247.3:p.Leu314=
ENST00000671824.1:c.1005G>C	ENSP00000500264.1:p.Leu335=
ENST00000673284.1:c.942G>C	ENSP00000499852.1:p.Leu314=
ENST00000345378.6:c.945G>C	ENSP00000223366.2:p.Leu315=
ENST00000395796.7:c.939G>C	ENSP00000379142.3:p.Leu313=
ENST00000403799.7:c.942G>C	ENSP00000384247.3:p.Leu314=
ENST00000437084.1:c.891G>C	ENSP00000402840.1:p.Leu297=
ENST00000473353.1:n.240G>C
ENST00000616242.4:c.939G>C	ENSP00000482149.1:p.Leu313=
NM_000162.3:c.942G>C	NP_000153.1:p.Leu314=
NM_033507.1:c.945G>C	NP_277042.1:p.Leu315=
NM_033508.1:c.939G>C	NP_277043.1:p.Leu313=
NM_000162.4:c.942G>C	NP_000153.1:p.Leu314=
NM_001354800.1:c.942G>C	NP_001341729.1:p.Leu314=
NM_001354801.1:c.8+79G>C	NP_001341730.1:n.8+79G>C
NM_033507.2:c.945G>C	NP_277042.1:p.Leu315=
NM_033508.2:c.939G>C	NP_277043.1:p.Leu313=
NM_000162.5:c.942G>C MANE Select	NP_000153.1:p.Leu314=
NM_033507.3:c.945G>C	NP_277042.1:p.Leu315=
NM_033508.3:c.939G>C	NP_277043.1:p.Leu313=