Canonical Allele Identifier: CA367403203

Gene: GCK

Linked Data

• ClinVar Variation Id: 1679552
• ClinVar RCV Id: RCV002227431 ; RCV002473357 ; RCV003329435
• dbSNP Id: rs2128823091
• MyVariant Identifiers: chr7:g.44192900C>T (hg19) ; chr7:g.44153301C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44153301C>T , CM000669.2:g.44153301C>T	GRCh38
NC_000007.13:g.44192900C>T , CM000669.1:g.44192900C>T	GRCh37
NC_000007.12:g.44159425C>T	NCBI36
NG_008847.1:g.41123G>A
NG_008847.2:g.49870G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*206G>A	ENSP00000379142.4:n.*206G>A
ENST00000616242.5:c.208G>A	ENSP00000482149.2:p.Glu70Lys
ENST00000682635.1:n.694G>A
ENST00000345378.7:c.211G>A	ENSP00000223366.2:p.Glu71Lys
ENST00000403799.8:c.208G>A MANE Select	ENSP00000384247.3:p.Glu70Lys
ENST00000671824.1:c.208G>A	ENSP00000500264.1:p.Glu70Lys
ENST00000673284.1:c.208G>A	ENSP00000499852.1:p.Glu70Lys
ENST00000345378.6:c.211G>A	ENSP00000223366.2:p.Glu71Lys
ENST00000395796.7:c.205G>A	ENSP00000379142.3:p.Glu69Lys
ENST00000403799.7:c.208G>A	ENSP00000384247.3:p.Glu70Lys
ENST00000437084.1:c.208G>A	ENSP00000402840.1:p.Glu70Lys
ENST00000616242.4:c.205G>A	ENSP00000482149.1:p.Glu69Lys
NM_000162.3:c.208G>A	NP_000153.1:p.Glu70Lys
NM_033507.1:c.211G>A	NP_277042.1:p.Glu71Lys
NM_033508.1:c.205G>A	NP_277043.1:p.Glu69Lys
NM_000162.4:c.208G>A	NP_000153.1:p.Glu70Lys
NM_001354800.1:c.208G>A	NP_001341729.1:p.Glu70Lys
NM_033507.2:c.211G>A	NP_277042.1:p.Glu71Lys
NM_033508.2:c.205G>A	NP_277043.1:p.Glu69Lys
NM_000162.5:c.208G>A MANE Select	NP_000153.1:p.Glu70Lys
NM_033507.3:c.211G>A	NP_277042.1:p.Glu71Lys
NM_033508.3:c.205G>A	NP_277043.1:p.Glu69Lys