Canonical Allele Identifier: CA454607825

Gene: GCK

Linked Data

• dbSNP Id: rs753628968
• gnomAD v2: 7-44186118-G-C
• COSMIC: COSM3638885 ; COSM3638886 ; COSM3638887
• MyVariant Identifiers: chr7:g.44186118G>C (hg19) ; chr7:g.44146519G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146519G>C , CM000669.2:g.44146519G>C	GRCh38
NC_000007.13:g.44186118G>C , CM000669.1:g.44186118G>C	GRCh37
NC_000007.12:g.44152643G>C	NCBI36
NG_008847.1:g.47905C>G
NG_008847.2:g.56652C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*961C>G	ENSP00000379142.4:n.*961C>G
ENST00000616242.5:c.*83C>G	ENSP00000482149.2:n.*83C>G
ENST00000683378.1:n.189C>G
ENST00000345378.7:c.966C>G	ENSP00000223366.2:p.Ser322=
ENST00000403799.8:c.963C>G MANE Select	ENSP00000384247.3:p.Ser321=
ENST00000671824.1:c.1026C>G	ENSP00000500264.1:p.Ser342=
ENST00000673284.1:c.963C>G	ENSP00000499852.1:p.Ser321=
ENST00000345378.6:c.966C>G	ENSP00000223366.2:p.Ser322=
ENST00000395796.7:c.960C>G	ENSP00000379142.3:p.Ser320=
ENST00000403799.7:c.963C>G	ENSP00000384247.3:p.Ser321=
ENST00000437084.1:c.912C>G	ENSP00000402840.1:p.Ser304=
ENST00000473353.1:n.261C>G
ENST00000616242.4:c.960C>G	ENSP00000482149.1:p.Ser320=
NM_000162.3:c.963C>G	NP_000153.1:p.Ser321=
NM_033507.1:c.966C>G	NP_277042.1:p.Ser322=
NM_033508.1:c.960C>G	NP_277043.1:p.Ser320=
NM_000162.4:c.963C>G	NP_000153.1:p.Ser321=
NM_001354800.1:c.963C>G	NP_001341729.1:p.Ser321=
NM_001354801.1:c.8+100C>G	NP_001341730.1:n.8+100C>G
NM_033507.2:c.966C>G	NP_277042.1:p.Ser322=
NM_033508.2:c.960C>G	NP_277043.1:p.Ser320=
NM_000162.5:c.963C>G MANE Select	NP_000153.1:p.Ser321=
NM_033507.3:c.966C>G	NP_277042.1:p.Ser322=
NM_033508.3:c.960C>G	NP_277043.1:p.Ser320=