Canonical Allele Identifier: CA213737

Gene: GCK

Linked Data

• ClinVar Variation Id: 36187
• ClinVar RCV Id: RCV000029850 ; RCV001288976 ; RCV002345255 ; RCV003234925
• dbSNP Id: rs193922271
• gnomAD v3: 7-44145543-G-C
• gnomAD v4: 7-44145543-G-C
• MyVariant Identifiers: chr7:g.44185142G>C (hg19) ; chr7:g.44145543G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145543G>C , CM000669.2:g.44145543G>C	GRCh38
NC_000007.13:g.44185142G>C , CM000669.1:g.44185142G>C	GRCh37
NC_000007.12:g.44151667G>C	NCBI36
NG_008847.1:g.48881C>G
NG_008847.2:g.57628C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1205C>G	ENSP00000379142.4:n.*1205C>G
ENST00000616242.5:c.*327C>G	ENSP00000482149.2:n.*327C>G
ENST00000683378.1:n.433C>G
ENST00000336642.9:c.241C>G	ENSP00000338009.5:p.Arg81Gly
ENST00000345378.7:c.1210C>G	ENSP00000223366.2:p.Arg404Gly
ENST00000403799.8:c.1207C>G MANE Select	ENSP00000384247.3:p.Arg403Gly
ENST00000671824.1:c.1270C>G	ENSP00000500264.1:p.Arg424Gly
ENST00000672743.1:n.219C>G
ENST00000673284.1:c.1207C>G	ENSP00000499852.1:p.Arg403Gly
ENST00000336642.8:c.259C>G	ENSP00000338009.4:p.Arg87Gly
ENST00000345378.6:c.1210C>G	ENSP00000223366.2:p.Arg404Gly
ENST00000395796.7:c.1204C>G	ENSP00000379142.3:p.Arg402Gly
ENST00000403799.7:c.1207C>G	ENSP00000384247.3:p.Arg403Gly
ENST00000437084.1:c.1156C>G	ENSP00000402840.1:p.Arg386Gly
ENST00000459642.1:n.587C>G
ENST00000616242.4:c.1204C>G	ENSP00000482149.1:p.Arg402Gly
NM_000162.3:c.1207C>G	NP_000153.1:p.Arg403Gly
NM_033507.1:c.1210C>G	NP_277042.1:p.Arg404Gly
NM_033508.1:c.1204C>G	NP_277043.1:p.Arg402Gly
NM_000162.4:c.1207C>G	NP_000153.1:p.Arg403Gly
NM_001354800.1:c.1207C>G	NP_001341729.1:p.Arg403Gly
NM_001354801.1:c.196C>G	NP_001341730.1:p.Arg66Gly
NM_001354802.1:c.67C>G	NP_001341731.1:p.Arg23Gly
NM_001354803.1:c.241C>G	NP_001341732.1:p.Arg81Gly
NM_033507.2:c.1210C>G	NP_277042.1:p.Arg404Gly
NM_033508.2:c.1204C>G	NP_277043.1:p.Arg402Gly
XM_024446707.1:c.67C>G	XP_024302475.1:p.Arg23Gly
NM_000162.5:c.1207C>G MANE Select	NP_000153.1:p.Arg403Gly
NM_033507.3:c.1210C>G	NP_277042.1:p.Arg404Gly
NM_033508.3:c.1204C>G	NP_277043.1:p.Arg402Gly
NM_001354803.2:c.241C>G	NP_001341732.1:p.Arg81Gly