Canonical Allele Identifier: CA367399931

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44186134A>C (hg19) ; chr7:g.44146535A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146535A>C , CM000669.2:g.44146535A>C	GRCh38
NC_000007.13:g.44186134A>C , CM000669.1:g.44186134A>C	GRCh37
NC_000007.12:g.44152659A>C	NCBI36
NG_008847.1:g.47889T>G
NG_008847.2:g.56636T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*945T>G	ENSP00000379142.4:n.*945T>G
ENST00000616242.5:c.*67T>G	ENSP00000482149.2:n.*67T>G
ENST00000683378.1:n.173T>G
ENST00000345378.7:c.950T>G	ENSP00000223366.2:p.Phe317Cys
ENST00000403799.8:c.947T>G MANE Select	ENSP00000384247.3:p.Phe316Cys
ENST00000671824.1:c.1010T>G	ENSP00000500264.1:p.Phe337Cys
ENST00000673284.1:c.947T>G	ENSP00000499852.1:p.Phe316Cys
ENST00000345378.6:c.950T>G	ENSP00000223366.2:p.Phe317Cys
ENST00000395796.7:c.944T>G	ENSP00000379142.3:p.Phe315Cys
ENST00000403799.7:c.947T>G	ENSP00000384247.3:p.Phe316Cys
ENST00000437084.1:c.896T>G	ENSP00000402840.1:p.Phe299Cys
ENST00000473353.1:n.245T>G
ENST00000616242.4:c.944T>G	ENSP00000482149.1:p.Phe315Cys
NM_000162.3:c.947T>G	NP_000153.1:p.Phe316Cys
NM_033507.1:c.950T>G	NP_277042.1:p.Phe317Cys
NM_033508.1:c.944T>G	NP_277043.1:p.Phe315Cys
NM_000162.4:c.947T>G	NP_000153.1:p.Phe316Cys
NM_001354800.1:c.947T>G	NP_001341729.1:p.Phe316Cys
NM_001354801.1:c.8+84T>G	NP_001341730.1:n.8+84T>G
NM_033507.2:c.950T>G	NP_277042.1:p.Phe317Cys
NM_033508.2:c.944T>G	NP_277043.1:p.Phe315Cys
NM_000162.5:c.947T>G MANE Select	NP_000153.1:p.Phe316Cys
NM_033507.3:c.950T>G	NP_277042.1:p.Phe317Cys
NM_033508.3:c.944T>G	NP_277043.1:p.Phe315Cys