Canonical Allele Identifier: CA367403382

Gene: GCK

Linked Data

• ClinVar Variation Id: 1774404
• ClinVar RCV Id: RCV002392406
• MyVariant Identifiers: chr7:g.44192957C>A (hg19) ; chr7:g.44153358C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44153358C>A , CM000669.2:g.44153358C>A	GRCh38
NC_000007.13:g.44192957C>A , CM000669.1:g.44192957C>A	GRCh37
NC_000007.12:g.44159482C>A	NCBI36
NG_008847.1:g.41066G>T
NG_008847.2:g.49813G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*149G>T	ENSP00000379142.4:n.*149G>T
ENST00000616242.5:c.151G>T	ENSP00000482149.2:p.Glu51Ter
ENST00000682635.1:n.637G>T
ENST00000345378.7:c.154G>T	ENSP00000223366.2:p.Glu52Ter
ENST00000403799.8:c.151G>T MANE Select	ENSP00000384247.3:p.Glu51Ter
ENST00000671824.1:c.151G>T	ENSP00000500264.1:p.Glu51Ter
ENST00000673284.1:c.151G>T	ENSP00000499852.1:p.Glu51Ter
ENST00000345378.6:c.154G>T	ENSP00000223366.2:p.Glu52Ter
ENST00000395796.7:c.148G>T	ENSP00000379142.3:p.Glu50Ter
ENST00000403799.7:c.151G>T	ENSP00000384247.3:p.Glu51Ter
ENST00000437084.1:c.151G>T	ENSP00000402840.1:p.Glu51Ter
ENST00000616242.4:c.148G>T	ENSP00000482149.1:p.Glu50Ter
NM_000162.3:c.151G>T	NP_000153.1:p.Glu51Ter
NM_033507.1:c.154G>T	NP_277042.1:p.Glu52Ter
NM_033508.1:c.148G>T	NP_277043.1:p.Glu50Ter
NM_000162.4:c.151G>T	NP_000153.1:p.Glu51Ter
NM_001354800.1:c.151G>T	NP_001341729.1:p.Glu51Ter
NM_033507.2:c.154G>T	NP_277042.1:p.Glu52Ter
NM_033508.2:c.148G>T	NP_277043.1:p.Glu50Ter
NM_000162.5:c.151G>T MANE Select	NP_000153.1:p.Glu51Ter
NM_033507.3:c.154G>T	NP_277042.1:p.Glu52Ter
NM_033508.3:c.148G>T	NP_277043.1:p.Glu50Ter