Canonical Allele Identifier: CA454606709

Gene: GCK

Linked Data

• gnomAD v4: 7-44145270-G-T
• MyVariant Identifiers: chr7:g.44184869G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145270G>T , CM000669.2:g.44145270G>T	GRCh38
NC_000007.13:g.44184869G>T , CM000669.1:g.44184869G>T	GRCh37
NC_000007.12:g.44151394G>T	NCBI36
NG_008847.1:g.49154C>A
NG_008847.2:g.57901C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1262C>A	ENSP00000379142.4:n.*1262C>A
ENST00000616242.5:c.*384C>A	ENSP00000482149.2:n.*384C>A
ENST00000683378.1:n.490C>A
ENST00000336642.9:c.298C>A	ENSP00000338009.5:p.Arg100=
ENST00000345378.7:c.1267C>A	ENSP00000223366.2:p.Arg423=
ENST00000403799.8:c.1264C>A MANE Select	ENSP00000384247.3:p.Arg422=
ENST00000671824.1:c.1327C>A	ENSP00000500264.1:p.Arg443=
ENST00000672743.1:n.276C>A
ENST00000673284.1:c.1264C>A	ENSP00000499852.1:p.Arg422=
ENST00000336642.8:c.316C>A	ENSP00000338009.4:p.Arg106=
ENST00000345378.6:c.1267C>A	ENSP00000223366.2:p.Arg423=
ENST00000395796.7:c.1261C>A	ENSP00000379142.3:p.Arg421=
ENST00000403799.7:c.1264C>A	ENSP00000384247.3:p.Arg422=
ENST00000437084.1:c.1213C>A	ENSP00000402840.1:p.Arg405=
ENST00000459642.1:n.644C>A
ENST00000616242.4:c.1261C>A	ENSP00000482149.1:p.Arg421=
NM_000162.3:c.1264C>A	NP_000153.1:p.Arg422=
NM_033507.1:c.1267C>A	NP_277042.1:p.Arg423=
NM_033508.1:c.1261C>A	NP_277043.1:p.Arg421=
NM_000162.4:c.1264C>A	NP_000153.1:p.Arg422=
NM_001354800.1:c.1264C>A	NP_001341729.1:p.Arg422=
NM_001354801.1:c.253C>A	NP_001341730.1:p.Arg85=
NM_001354802.1:c.124C>A	NP_001341731.1:p.Arg42=
NM_001354803.1:c.298C>A	NP_001341732.1:p.Arg100=
NM_033507.2:c.1267C>A	NP_277042.1:p.Arg423=
NM_033508.2:c.1261C>A	NP_277043.1:p.Arg421=
XM_024446707.1:c.124C>A	XP_024302475.1:p.Arg42=
NM_000162.5:c.1264C>A MANE Select	NP_000153.1:p.Arg422=
NM_033507.3:c.1267C>A	NP_277042.1:p.Arg423=
NM_033508.3:c.1261C>A	NP_277043.1:p.Arg421=
NM_001354803.2:c.298C>A	NP_001341732.1:p.Arg100=