Canonical Allele Identifier: CA454606693

Gene: GCK

Linked Data

• dbSNP Id: rs1432344367
• gnomAD v2: 7-44184846-C-T
• MyVariant Identifiers: chr7:g.44184846C>T (hg19) ; chr7:g.44145247C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145247C>T , CM000669.2:g.44145247C>T	GRCh38
NC_000007.13:g.44184846C>T , CM000669.1:g.44184846C>T	GRCh37
NC_000007.12:g.44151371C>T	NCBI36
NG_008847.1:g.49177G>A
NG_008847.2:g.57924G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1285G>A	ENSP00000379142.4:n.*1285G>A
ENST00000616242.5:c.*407G>A	ENSP00000482149.2:n.*407G>A
ENST00000683378.1:n.513G>A
ENST00000336642.9:c.321G>A	ENSP00000338009.5:p.Arg107=
ENST00000345378.7:c.1290G>A	ENSP00000223366.2:p.Arg430=
ENST00000403799.8:c.1287G>A MANE Select	ENSP00000384247.3:p.Arg429=
ENST00000671824.1:c.1350G>A	ENSP00000500264.1:p.Arg450=
ENST00000672743.1:n.299G>A
ENST00000673284.1:c.1287G>A	ENSP00000499852.1:p.Arg429=
ENST00000336642.8:c.339G>A	ENSP00000338009.4:p.Arg113=
ENST00000345378.6:c.1290G>A	ENSP00000223366.2:p.Arg430=
ENST00000395796.7:c.1284G>A	ENSP00000379142.3:p.Arg428=
ENST00000403799.7:c.1287G>A	ENSP00000384247.3:p.Arg429=
ENST00000437084.1:c.1236G>A	ENSP00000402840.1:p.Arg412=
ENST00000459642.1:n.667G>A
ENST00000616242.4:c.1284G>A	ENSP00000482149.1:p.Arg428=
NM_000162.3:c.1287G>A	NP_000153.1:p.Arg429=
NM_033507.1:c.1290G>A	NP_277042.1:p.Arg430=
NM_033508.1:c.1284G>A	NP_277043.1:p.Arg428=
NM_000162.4:c.1287G>A	NP_000153.1:p.Arg429=
NM_001354800.1:c.1287G>A	NP_001341729.1:p.Arg429=
NM_001354801.1:c.276G>A	NP_001341730.1:p.Arg92=
NM_001354802.1:c.147G>A	NP_001341731.1:p.Arg49=
NM_001354803.1:c.321G>A	NP_001341732.1:p.Arg107=
NM_033507.2:c.1290G>A	NP_277042.1:p.Arg430=
NM_033508.2:c.1284G>A	NP_277043.1:p.Arg428=
XM_024446707.1:c.147G>A	XP_024302475.1:p.Arg49=
NM_000162.5:c.1287G>A MANE Select	NP_000153.1:p.Arg429=
NM_033507.3:c.1290G>A	NP_277042.1:p.Arg430=
NM_033508.3:c.1284G>A	NP_277043.1:p.Arg428=
NM_001354803.2:c.321G>A	NP_001341732.1:p.Arg107=