Canonical Allele Identifier: CA367399936

Gene: GCK

Linked Data

• ClinVar Variation Id: 1478163
• ClinVar RCV Id: RCV001998544
• dbSNP Id: rs2128819989
• MyVariant Identifiers: chr7:g.44186135A>G (hg19) ; chr7:g.44146536A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146536A>G , CM000669.2:g.44146536A>G	GRCh38
NC_000007.13:g.44186135A>G , CM000669.1:g.44186135A>G	GRCh37
NC_000007.12:g.44152660A>G	NCBI36
NG_008847.1:g.47888T>C
NG_008847.2:g.56635T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*944T>C	ENSP00000379142.4:n.*944T>C
ENST00000616242.5:c.*66T>C	ENSP00000482149.2:n.*66T>C
ENST00000683378.1:n.172T>C
ENST00000345378.7:c.949T>C	ENSP00000223366.2:p.Phe317Leu
ENST00000403799.8:c.946T>C MANE Select	ENSP00000384247.3:p.Phe316Leu
ENST00000671824.1:c.1009T>C	ENSP00000500264.1:p.Phe337Leu
ENST00000673284.1:c.946T>C	ENSP00000499852.1:p.Phe316Leu
ENST00000345378.6:c.949T>C	ENSP00000223366.2:p.Phe317Leu
ENST00000395796.7:c.943T>C	ENSP00000379142.3:p.Phe315Leu
ENST00000403799.7:c.946T>C	ENSP00000384247.3:p.Phe316Leu
ENST00000437084.1:c.895T>C	ENSP00000402840.1:p.Phe299Leu
ENST00000473353.1:n.244T>C
ENST00000616242.4:c.943T>C	ENSP00000482149.1:p.Phe315Leu
NM_000162.3:c.946T>C	NP_000153.1:p.Phe316Leu
NM_033507.1:c.949T>C	NP_277042.1:p.Phe317Leu
NM_033508.1:c.943T>C	NP_277043.1:p.Phe315Leu
NM_000162.4:c.946T>C	NP_000153.1:p.Phe316Leu
NM_001354800.1:c.946T>C	NP_001341729.1:p.Phe316Leu
NM_001354801.1:c.8+83T>C	NP_001341730.1:n.8+83T>C
NM_033507.2:c.949T>C	NP_277042.1:p.Phe317Leu
NM_033508.2:c.943T>C	NP_277043.1:p.Phe315Leu
NM_000162.5:c.946T>C MANE Select	NP_000153.1:p.Phe316Leu
NM_033507.3:c.949T>C	NP_277042.1:p.Phe317Leu
NM_033508.3:c.943T>C	NP_277043.1:p.Phe315Leu