Canonical Allele Identifier: CA367401531

Gene: GCK

Linked Data

• ClinVar Variation Id: 804850
• ClinVar RCV Id: RCV000992056
• dbSNP Id: rs1085307455
• MyVariant Identifiers: chr7:g.44189576G>C (hg19) ; chr7:g.44149977G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149977G>C , CM000669.2:g.44149977G>C	GRCh38
NC_000007.13:g.44189576G>C , CM000669.1:g.44189576G>C	GRCh37
NC_000007.12:g.44156101G>C	NCBI36
NG_008847.1:g.44447C>G
NG_008847.2:g.53194C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*569C>G	ENSP00000379142.4:n.*569C>G
ENST00000616242.5:c.571C>G	ENSP00000482149.2:p.Arg191Gly
ENST00000682635.1:n.1057C>G
ENST00000345378.7:c.574C>G	ENSP00000223366.2:p.Arg192Gly
ENST00000403799.8:c.571C>G MANE Select	ENSP00000384247.3:p.Arg191Gly
ENST00000671824.1:c.571C>G	ENSP00000500264.1:p.Arg191Gly
ENST00000673284.1:c.571C>G	ENSP00000499852.1:p.Arg191Gly
ENST00000345378.6:c.574C>G	ENSP00000223366.2:p.Arg192Gly
ENST00000395796.7:c.568C>G	ENSP00000379142.3:p.Arg190Gly
ENST00000403799.7:c.571C>G	ENSP00000384247.3:p.Arg191Gly
ENST00000437084.1:c.520C>G	ENSP00000402840.1:p.Arg174Gly
ENST00000616242.4:c.568C>G	ENSP00000482149.1:p.Arg190Gly
NM_000162.3:c.571C>G	NP_000153.1:p.Arg191Gly
NM_033507.1:c.574C>G	NP_277042.1:p.Arg192Gly
NM_033508.1:c.568C>G	NP_277043.1:p.Arg190Gly
NM_000162.4:c.571C>G	NP_000153.1:p.Arg191Gly
NM_001354800.1:c.571C>G	NP_001341729.1:p.Arg191Gly
NM_033507.2:c.574C>G	NP_277042.1:p.Arg192Gly
NM_033508.2:c.568C>G	NP_277043.1:p.Arg190Gly
NM_000162.5:c.571C>G MANE Select	NP_000153.1:p.Arg191Gly
NM_033507.3:c.574C>G	NP_277042.1:p.Arg192Gly
NM_033508.3:c.568C>G	NP_277043.1:p.Arg190Gly