Canonical Allele Identifier: CA367400590

Gene: GCK

Linked Data

• ClinVar Variation Id: 1679545
• ClinVar RCV Id: RCV002227424 ; RCV002509759 ; RCV003728049
• dbSNP Id: rs2128820597
• MyVariant Identifiers: chr7:g.44187341C>T (hg19) ; chr7:g.44147742C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147742C>T , CM000669.2:g.44147742C>T	GRCh38
NC_000007.13:g.44187341C>T , CM000669.1:g.44187341C>T	GRCh37
NC_000007.12:g.44153866C>T	NCBI36
NG_008847.1:g.46682G>A
NG_008847.2:g.55429G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*769G>A	ENSP00000379142.4:n.*769G>A
ENST00000616242.5:c.771G>A	ENSP00000482149.2:p.Trp257Ter
ENST00000345378.7:c.774G>A	ENSP00000223366.2:p.Trp258Ter
ENST00000403799.8:c.771G>A MANE Select	ENSP00000384247.3:p.Trp257Ter
ENST00000671824.1:c.771G>A	ENSP00000500264.1:p.Trp257Ter
ENST00000673284.1:c.771G>A	ENSP00000499852.1:p.Trp257Ter
ENST00000345378.6:c.774G>A	ENSP00000223366.2:p.Trp258Ter
ENST00000395796.7:c.768G>A	ENSP00000379142.3:p.Trp256Ter
ENST00000403799.7:c.771G>A	ENSP00000384247.3:p.Trp257Ter
ENST00000437084.1:c.720G>A	ENSP00000402840.1:p.Trp240Ter
ENST00000616242.4:c.768G>A	ENSP00000482149.1:p.Trp256Ter
NM_000162.3:c.771G>A	NP_000153.1:p.Trp257Ter
NM_033507.1:c.774G>A	NP_277042.1:p.Trp258Ter
NM_033508.1:c.768G>A	NP_277043.1:p.Trp256Ter
XR_927223.1:n.76C>T
NM_000162.4:c.771G>A	NP_000153.1:p.Trp257Ter
NM_001354800.1:c.771G>A	NP_001341729.1:p.Trp257Ter
NM_033507.2:c.774G>A	NP_277042.1:p.Trp258Ter
NM_033508.2:c.768G>A	NP_277043.1:p.Trp256Ter
XR_927223.2:n.76C>T
NM_000162.5:c.771G>A MANE Select	NP_000153.1:p.Trp257Ter
NM_033507.3:c.774G>A	NP_277042.1:p.Trp258Ter
NM_033508.3:c.768G>A	NP_277043.1:p.Trp256Ter