Canonical Allele Identifier: CA367400643

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44187367C>A (hg19) ; chr7:g.44147768C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147768C>A , CM000669.2:g.44147768C>A	GRCh38
NC_000007.13:g.44187367C>A , CM000669.1:g.44187367C>A	GRCh37
NC_000007.12:g.44153892C>A	NCBI36
NG_008847.1:g.46656G>T
NG_008847.2:g.55403G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*743G>T	ENSP00000379142.4:n.*743G>T
ENST00000616242.5:c.745G>T	ENSP00000482149.2:p.Gly249Cys
ENST00000345378.7:c.748G>T	ENSP00000223366.2:p.Gly250Cys
ENST00000403799.8:c.745G>T MANE Select	ENSP00000384247.3:p.Gly249Cys
ENST00000671824.1:c.745G>T	ENSP00000500264.1:p.Gly249Cys
ENST00000673284.1:c.745G>T	ENSP00000499852.1:p.Gly249Cys
ENST00000345378.6:c.748G>T	ENSP00000223366.2:p.Gly250Cys
ENST00000395796.7:c.742G>T	ENSP00000379142.3:p.Gly248Cys
ENST00000403799.7:c.745G>T	ENSP00000384247.3:p.Gly249Cys
ENST00000437084.1:c.694G>T	ENSP00000402840.1:p.Gly232Cys
ENST00000616242.4:c.742G>T	ENSP00000482149.1:p.Gly248Cys
NM_000162.3:c.745G>T	NP_000153.1:p.Gly249Cys
NM_033507.1:c.748G>T	NP_277042.1:p.Gly250Cys
NM_033508.1:c.742G>T	NP_277043.1:p.Gly248Cys
XR_927223.1:n.82+20C>A
NM_000162.4:c.745G>T	NP_000153.1:p.Gly249Cys
NM_001354800.1:c.745G>T	NP_001341729.1:p.Gly249Cys
NM_033507.2:c.748G>T	NP_277042.1:p.Gly250Cys
NM_033508.2:c.742G>T	NP_277043.1:p.Gly248Cys
XR_927223.2:n.82+20C>A
NM_000162.5:c.745G>T MANE Select	NP_000153.1:p.Gly249Cys
NM_033507.3:c.748G>T	NP_277042.1:p.Gly250Cys
NM_033508.3:c.742G>T	NP_277043.1:p.Gly248Cys