Canonical Allele Identifier: CA367397239

Gene: GCK

Linked Data

• ClinVar Variation Id: 1489311
• ClinVar RCV Id: RCV002001467
• dbSNP Id: rs2128818866
• MyVariant Identifiers: chr7:g.44184862T>G (hg19) ; chr7:g.44145263T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145263T>G , CM000669.2:g.44145263T>G	GRCh38
NC_000007.13:g.44184862T>G , CM000669.1:g.44184862T>G	GRCh37
NC_000007.12:g.44151387T>G	NCBI36
NG_008847.1:g.49161A>C
NG_008847.2:g.57908A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1269A>C	ENSP00000379142.4:n.*1269A>C
ENST00000616242.5:c.*391A>C	ENSP00000482149.2:n.*391A>C
ENST00000683378.1:n.497A>C
ENST00000336642.9:c.305A>C	ENSP00000338009.5:p.His102Pro
ENST00000345378.7:c.1274A>C	ENSP00000223366.2:p.His425Pro
ENST00000403799.8:c.1271A>C MANE Select	ENSP00000384247.3:p.His424Pro
ENST00000671824.1:c.1334A>C	ENSP00000500264.1:p.His445Pro
ENST00000672743.1:n.283A>C
ENST00000673284.1:c.1271A>C	ENSP00000499852.1:p.His424Pro
ENST00000336642.8:c.323A>C	ENSP00000338009.4:p.His108Pro
ENST00000345378.6:c.1274A>C	ENSP00000223366.2:p.His425Pro
ENST00000395796.7:c.1268A>C	ENSP00000379142.3:p.His423Pro
ENST00000403799.7:c.1271A>C	ENSP00000384247.3:p.His424Pro
ENST00000437084.1:c.1220A>C	ENSP00000402840.1:p.His407Pro
ENST00000459642.1:n.651A>C
ENST00000616242.4:c.1268A>C	ENSP00000482149.1:p.His423Pro
NM_000162.3:c.1271A>C	NP_000153.1:p.His424Pro
NM_033507.1:c.1274A>C	NP_277042.1:p.His425Pro
NM_033508.1:c.1268A>C	NP_277043.1:p.His423Pro
NM_000162.4:c.1271A>C	NP_000153.1:p.His424Pro
NM_001354800.1:c.1271A>C	NP_001341729.1:p.His424Pro
NM_001354801.1:c.260A>C	NP_001341730.1:p.His87Pro
NM_001354802.1:c.131A>C	NP_001341731.1:p.His44Pro
NM_001354803.1:c.305A>C	NP_001341732.1:p.His102Pro
NM_033507.2:c.1274A>C	NP_277042.1:p.His425Pro
NM_033508.2:c.1268A>C	NP_277043.1:p.His423Pro
XM_024446707.1:c.131A>C	XP_024302475.1:p.His44Pro
NM_000162.5:c.1271A>C MANE Select	NP_000153.1:p.His424Pro
NM_033507.3:c.1274A>C	NP_277042.1:p.His425Pro
NM_033508.3:c.1268A>C	NP_277043.1:p.His423Pro
NM_001354803.2:c.305A>C	NP_001341732.1:p.His102Pro