Canonical Allele Identifier: CA367398967

Gene: GCK

Linked Data

• ClinVar Variation Id: 2632567
• ClinVar RCV Id: RCV003416862
• MyVariant Identifiers: chr7:g.44185243C>G (hg19) ; chr7:g.44145644C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145644C>G , CM000669.2:g.44145644C>G	GRCh38
NC_000007.13:g.44185243C>G , CM000669.1:g.44185243C>G	GRCh37
NC_000007.12:g.44151768C>G	NCBI36
NG_008847.1:g.48780G>C
NG_008847.2:g.57527G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1104G>C	ENSP00000379142.4:n.*1104G>C
ENST00000616242.5:c.*226G>C	ENSP00000482149.2:n.*226G>C
ENST00000683378.1:n.332G>C
ENST00000336642.9:c.140G>C	ENSP00000338009.5:p.Arg47Pro
ENST00000345378.7:c.1109G>C	ENSP00000223366.2:p.Arg370Pro
ENST00000403799.8:c.1106G>C MANE Select	ENSP00000384247.3:p.Arg369Pro
ENST00000671824.1:c.1169G>C	ENSP00000500264.1:p.Arg390Pro
ENST00000672743.1:n.118G>C
ENST00000673284.1:c.1106G>C	ENSP00000499852.1:p.Arg369Pro
ENST00000336642.8:c.158G>C	ENSP00000338009.4:p.Arg53Pro
ENST00000345378.6:c.1109G>C	ENSP00000223366.2:p.Arg370Pro
ENST00000395796.7:c.1103G>C	ENSP00000379142.3:p.Arg368Pro
ENST00000403799.7:c.1106G>C	ENSP00000384247.3:p.Arg369Pro
ENST00000437084.1:c.1055G>C	ENSP00000402840.1:p.Arg352Pro
ENST00000459642.1:n.486G>C
ENST00000473353.1:n.404G>C
ENST00000616242.4:c.1103G>C	ENSP00000482149.1:p.Arg368Pro
NM_000162.3:c.1106G>C	NP_000153.1:p.Arg369Pro
NM_033507.1:c.1109G>C	NP_277042.1:p.Arg370Pro
NM_033508.1:c.1103G>C	NP_277043.1:p.Arg368Pro
NM_000162.4:c.1106G>C	NP_000153.1:p.Arg369Pro
NM_001354800.1:c.1106G>C	NP_001341729.1:p.Arg369Pro
NM_001354801.1:c.95G>C	NP_001341730.1:p.Arg32Pro
NM_001354802.1:c.-35G>C	NP_001341731.1:n.-35G>C
NM_001354803.1:c.140G>C	NP_001341732.1:p.Arg47Pro
NM_033507.2:c.1109G>C	NP_277042.1:p.Arg370Pro
NM_033508.2:c.1103G>C	NP_277043.1:p.Arg368Pro
XM_024446707.1:c.-35G>C	XP_024302475.1:n.-35G>C
NM_000162.5:c.1106G>C MANE Select	NP_000153.1:p.Arg369Pro
NM_033507.3:c.1109G>C	NP_277042.1:p.Arg370Pro
NM_033508.3:c.1103G>C	NP_277043.1:p.Arg368Pro
NM_001354803.2:c.140G>C	NP_001341732.1:p.Arg47Pro