Canonical Allele Identifier: CA4239603

Gene: GCK

Linked Data

• dbSNP Id: rs377355289
• ExAC: 7:44189583 A / G
• gnomAD v2: 7-44189583-A-G
• gnomAD v3: 7-44149984-A-G
• gnomAD v4: 7-44149984-A-G
• COSMIC: COSM3412080 ; COSM3412081 ; COSM3412082
• MyVariant Identifiers: chr7:g.44189583A>G (hg19) ; chr7:g.44149984A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149984A>G , CM000669.2:g.44149984A>G	GRCh38
NC_000007.13:g.44189583A>G , CM000669.1:g.44189583A>G	GRCh37
NC_000007.12:g.44156108A>G	NCBI36
NG_008847.1:g.44440T>C
NG_008847.2:g.53187T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*562T>C	ENSP00000379142.4:n.*562T>C
ENST00000616242.5:c.564T>C	ENSP00000482149.2:p.Ala188=
ENST00000682635.1:n.1050T>C
ENST00000345378.7:c.567T>C	ENSP00000223366.2:p.Ala189=
ENST00000403799.8:c.564T>C MANE Select	ENSP00000384247.3:p.Ala188=
ENST00000671824.1:c.564T>C	ENSP00000500264.1:p.Ala188=
ENST00000673284.1:c.564T>C	ENSP00000499852.1:p.Ala188=
ENST00000345378.6:c.567T>C	ENSP00000223366.2:p.Ala189=
ENST00000395796.7:c.561T>C	ENSP00000379142.3:p.Ala187=
ENST00000403799.7:c.564T>C	ENSP00000384247.3:p.Ala188=
ENST00000437084.1:c.513T>C	ENSP00000402840.1:p.Ala171=
ENST00000616242.4:c.561T>C	ENSP00000482149.1:p.Ala187=
NM_000162.3:c.564T>C	NP_000153.1:p.Ala188=
NM_033507.1:c.567T>C	NP_277042.1:p.Ala189=
NM_033508.1:c.561T>C	NP_277043.1:p.Ala187=
NM_000162.4:c.564T>C	NP_000153.1:p.Ala188=
NM_001354800.1:c.564T>C	NP_001341729.1:p.Ala188=
NM_033507.2:c.567T>C	NP_277042.1:p.Ala189=
NM_033508.2:c.561T>C	NP_277043.1:p.Ala187=
NM_000162.5:c.564T>C MANE Select	NP_000153.1:p.Ala188=
NM_033507.3:c.567T>C	NP_277042.1:p.Ala189=
NM_033508.3:c.561T>C	NP_277043.1:p.Ala187=