Canonical Allele Identifier: CA367396939

Gene: GCK

Linked Data

• ClinVar Variation Id: 804842
• ClinVar RCV Id: RCV000992046 ; RCV002290505
• dbSNP Id: rs1131691416
• MyVariant Identifiers: chr7:g.44184793C>G (hg19) ; chr7:g.44145194C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145194C>G , CM000669.2:g.44145194C>G	GRCh38
NC_000007.13:g.44184793C>G , CM000669.1:g.44184793C>G	GRCh37
NC_000007.12:g.44151318C>G	NCBI36
NG_008847.1:g.49230G>C
NG_008847.2:g.57977G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1338G>C	ENSP00000379142.4:n.*1338G>C
ENST00000616242.5:c.*460G>C	ENSP00000482149.2:n.*460G>C
ENST00000683378.1:n.566G>C
ENST00000336642.9:c.374G>C	ENSP00000338009.5:p.Arg125Pro
ENST00000345378.7:c.1343G>C	ENSP00000223366.2:p.Arg448Pro
ENST00000403799.8:c.1340G>C MANE Select	ENSP00000384247.3:p.Arg447Pro
ENST00000671824.1:c.1403G>C	ENSP00000500264.1:p.Arg468Pro
ENST00000672743.1:n.352G>C
ENST00000673284.1:c.1340G>C	ENSP00000499852.1:p.Arg447Pro
ENST00000336642.8:c.392G>C	ENSP00000338009.4:p.Arg131Pro
ENST00000345378.6:c.1343G>C	ENSP00000223366.2:p.Arg448Pro
ENST00000395796.7:c.1337G>C	ENSP00000379142.3:p.Arg446Pro
ENST00000403799.7:c.1340G>C	ENSP00000384247.3:p.Arg447Pro
ENST00000437084.1:c.1289G>C	ENSP00000402840.1:p.Arg430Pro
ENST00000459642.1:n.720G>C
ENST00000616242.4:c.1337G>C	ENSP00000482149.1:p.Arg446Pro
NM_000162.3:c.1340G>C	NP_000153.1:p.Arg447Pro
NM_033507.1:c.1343G>C	NP_277042.1:p.Arg448Pro
NM_033508.1:c.1337G>C	NP_277043.1:p.Arg446Pro
NM_000162.4:c.1340G>C	NP_000153.1:p.Arg447Pro
NM_001354800.1:c.1340G>C	NP_001341729.1:p.Arg447Pro
NM_001354801.1:c.329G>C	NP_001341730.1:p.Arg110Pro
NM_001354802.1:c.200G>C	NP_001341731.1:p.Arg67Pro
NM_001354803.1:c.374G>C	NP_001341732.1:p.Arg125Pro
NM_033507.2:c.1343G>C	NP_277042.1:p.Arg448Pro
NM_033508.2:c.1337G>C	NP_277043.1:p.Arg446Pro
XM_024446707.1:c.200G>C	XP_024302475.1:p.Arg67Pro
NM_000162.5:c.1340G>C MANE Select	NP_000153.1:p.Arg447Pro
NM_033507.3:c.1343G>C	NP_277042.1:p.Arg448Pro
NM_033508.3:c.1337G>C	NP_277043.1:p.Arg446Pro
NM_001354803.2:c.374G>C	NP_001341732.1:p.Arg125Pro