Canonical Allele Identifier: CA367401116

Gene: GCK

Linked Data

• ClinVar Variation Id: 2580859
• ClinVar RCV Id: RCV003330054
• MyVariant Identifiers: chr7:g.44189359C>G (hg19) ; chr7:g.44149760C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149760C>G , CM000669.2:g.44149760C>G	GRCh38
NC_000007.13:g.44189359C>G , CM000669.1:g.44189359C>G	GRCh37
NC_000007.12:g.44155884C>G	NCBI36
NG_008847.1:g.44664G>C
NG_008847.2:g.53411G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*677G>C	ENSP00000379142.4:n.*677G>C
ENST00000616242.5:c.679G>C	ENSP00000482149.2:p.Gly227Arg
ENST00000682635.1:n.1165G>C
ENST00000345378.7:c.682G>C	ENSP00000223366.2:p.Gly228Arg
ENST00000403799.8:c.679G>C MANE Select	ENSP00000384247.3:p.Gly227Arg
ENST00000671824.1:c.679G>C	ENSP00000500264.1:p.Gly227Arg
ENST00000673284.1:c.679G>C	ENSP00000499852.1:p.Gly227Arg
ENST00000345378.6:c.682G>C	ENSP00000223366.2:p.Gly228Arg
ENST00000395796.7:c.676G>C	ENSP00000379142.3:p.Gly226Arg
ENST00000403799.7:c.679G>C	ENSP00000384247.3:p.Gly227Arg
ENST00000437084.1:c.628G>C	ENSP00000402840.1:p.Gly210Arg
ENST00000616242.4:c.676G>C	ENSP00000482149.1:p.Gly226Arg
NM_000162.3:c.679G>C	NP_000153.1:p.Gly227Arg
NM_033507.1:c.682G>C	NP_277042.1:p.Gly228Arg
NM_033508.1:c.676G>C	NP_277043.1:p.Gly226Arg
XR_927223.1:n.275C>G
NM_000162.4:c.679G>C	NP_000153.1:p.Gly227Arg
NM_001354800.1:c.679G>C	NP_001341729.1:p.Gly227Arg
NM_033507.2:c.682G>C	NP_277042.1:p.Gly228Arg
NM_033508.2:c.676G>C	NP_277043.1:p.Gly226Arg
XR_927223.2:n.275C>G
NM_000162.5:c.679G>C MANE Select	NP_000153.1:p.Gly227Arg
NM_033507.3:c.682G>C	NP_277042.1:p.Gly228Arg
NM_033508.3:c.676G>C	NP_277043.1:p.Gly226Arg