Canonical Allele Identifier: CA367397268

Gene: GCK

Linked Data

• ClinVar Variation Id: 804841
• ClinVar RCV Id: RCV000992044 ; RCV003883526
• dbSNP Id: rs1010302320
• MyVariant Identifiers: chr7:g.44184868C>G (hg19) ; chr7:g.44145269C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145269C>G , CM000669.2:g.44145269C>G	GRCh38
NC_000007.13:g.44184868C>G , CM000669.1:g.44184868C>G	GRCh37
NC_000007.12:g.44151393C>G	NCBI36
NG_008847.1:g.49155G>C
NG_008847.2:g.57902G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1263G>C	ENSP00000379142.4:n.*1263G>C
ENST00000616242.5:c.*385G>C	ENSP00000482149.2:n.*385G>C
ENST00000683378.1:n.491G>C
ENST00000336642.9:c.299G>C	ENSP00000338009.5:p.Arg100Pro
ENST00000345378.7:c.1268G>C	ENSP00000223366.2:p.Arg423Pro
ENST00000403799.8:c.1265G>C MANE Select	ENSP00000384247.3:p.Arg422Pro
ENST00000671824.1:c.1328G>C	ENSP00000500264.1:p.Arg443Pro
ENST00000672743.1:n.277G>C
ENST00000673284.1:c.1265G>C	ENSP00000499852.1:p.Arg422Pro
ENST00000336642.8:c.317G>C	ENSP00000338009.4:p.Arg106Pro
ENST00000345378.6:c.1268G>C	ENSP00000223366.2:p.Arg423Pro
ENST00000395796.7:c.1262G>C	ENSP00000379142.3:p.Arg421Pro
ENST00000403799.7:c.1265G>C	ENSP00000384247.3:p.Arg422Pro
ENST00000437084.1:c.1214G>C	ENSP00000402840.1:p.Arg405Pro
ENST00000459642.1:n.645G>C
ENST00000616242.4:c.1262G>C	ENSP00000482149.1:p.Arg421Pro
NM_000162.3:c.1265G>C	NP_000153.1:p.Arg422Pro
NM_033507.1:c.1268G>C	NP_277042.1:p.Arg423Pro
NM_033508.1:c.1262G>C	NP_277043.1:p.Arg421Pro
NM_000162.4:c.1265G>C	NP_000153.1:p.Arg422Pro
NM_001354800.1:c.1265G>C	NP_001341729.1:p.Arg422Pro
NM_001354801.1:c.254G>C	NP_001341730.1:p.Arg85Pro
NM_001354802.1:c.125G>C	NP_001341731.1:p.Arg42Pro
NM_001354803.1:c.299G>C	NP_001341732.1:p.Arg100Pro
NM_033507.2:c.1268G>C	NP_277042.1:p.Arg423Pro
NM_033508.2:c.1262G>C	NP_277043.1:p.Arg421Pro
XM_024446707.1:c.125G>C	XP_024302475.1:p.Arg42Pro
NM_000162.5:c.1265G>C MANE Select	NP_000153.1:p.Arg422Pro
NM_033507.3:c.1268G>C	NP_277042.1:p.Arg423Pro
NM_033508.3:c.1262G>C	NP_277043.1:p.Arg421Pro
NM_001354803.2:c.299G>C	NP_001341732.1:p.Arg100Pro