Canonical Allele Identifier: CA4239610

Gene: GCK

Linked Data

• ClinVar Variation Id: 2561394
• ClinVar RCV Id: RCV003301116
• dbSNP Id: rs749386678
• ExAC: 7:44189613 C / T
• gnomAD v2: 7-44189613-C-T
• gnomAD v3: 7-44150014-C-T
• gnomAD v4: 7-44150014-C-T
• COSMIC: COSM1450908 ; COSM1450909 ; COSM4785971
• MyVariant Identifiers: chr7:g.44189613C>T (hg19) ; chr7:g.44150014C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44150014C>T , CM000669.2:g.44150014C>T	GRCh38
NC_000007.13:g.44189613C>T , CM000669.1:g.44189613C>T	GRCh37
NC_000007.12:g.44156138C>T	NCBI36
NG_008847.1:g.44410G>A
NG_008847.2:g.53157G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*532G>A	ENSP00000379142.4:n.*532G>A
ENST00000616242.5:c.534G>A	ENSP00000482149.2:p.Gly178=
ENST00000682635.1:n.1020G>A
ENST00000345378.7:c.537G>A	ENSP00000223366.2:p.Gly179=
ENST00000403799.8:c.534G>A MANE Select	ENSP00000384247.3:p.Gly178=
ENST00000671824.1:c.534G>A	ENSP00000500264.1:p.Gly178=
ENST00000673284.1:c.534G>A	ENSP00000499852.1:p.Gly178=
ENST00000345378.6:c.537G>A	ENSP00000223366.2:p.Gly179=
ENST00000395796.7:c.531G>A	ENSP00000379142.3:p.Gly177=
ENST00000403799.7:c.534G>A	ENSP00000384247.3:p.Gly178=
ENST00000437084.1:c.483G>A	ENSP00000402840.1:p.Gly161=
ENST00000616242.4:c.531G>A	ENSP00000482149.1:p.Gly177=
NM_000162.3:c.534G>A	NP_000153.1:p.Gly178=
NM_033507.1:c.537G>A	NP_277042.1:p.Gly179=
NM_033508.1:c.531G>A	NP_277043.1:p.Gly177=
NM_000162.4:c.534G>A	NP_000153.1:p.Gly178=
NM_001354800.1:c.534G>A	NP_001341729.1:p.Gly178=
NM_033507.2:c.537G>A	NP_277042.1:p.Gly179=
NM_033508.2:c.531G>A	NP_277043.1:p.Gly177=
NM_000162.5:c.534G>A MANE Select	NP_000153.1:p.Gly178=
NM_033507.3:c.537G>A	NP_277042.1:p.Gly179=
NM_033508.3:c.531G>A	NP_277043.1:p.Gly177=