Canonical Allele Identifier: CA367399913

Gene: GCK

Linked Data

• ClinVar Variation Id: 585929
• ClinVar RCV Id: RCV000711789 ; RCV001805831
• dbSNP Id: rs193922340
• gnomAD v4: 7-44146530-C-T
• MyVariant Identifiers: chr7:g.44186129C>T (hg19) ; chr7:g.44146530C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146530C>T , CM000669.2:g.44146530C>T	GRCh38
NC_000007.13:g.44186129C>T , CM000669.1:g.44186129C>T	GRCh37
NC_000007.12:g.44152654C>T	NCBI36
NG_008847.1:g.47894G>A
NG_008847.2:g.56641G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*950G>A	ENSP00000379142.4:n.*950G>A
ENST00000616242.5:c.*72G>A	ENSP00000482149.2:n.*72G>A
ENST00000683378.1:n.178G>A
ENST00000345378.7:c.955G>A	ENSP00000223366.2:p.Gly319Arg
ENST00000403799.8:c.952G>A MANE Select	ENSP00000384247.3:p.Gly318Arg
ENST00000671824.1:c.1015G>A	ENSP00000500264.1:p.Gly339Arg
ENST00000673284.1:c.952G>A	ENSP00000499852.1:p.Gly318Arg
ENST00000345378.6:c.955G>A	ENSP00000223366.2:p.Gly319Arg
ENST00000395796.7:c.949G>A	ENSP00000379142.3:p.Gly317Arg
ENST00000403799.7:c.952G>A	ENSP00000384247.3:p.Gly318Arg
ENST00000437084.1:c.901G>A	ENSP00000402840.1:p.Gly301Arg
ENST00000473353.1:n.250G>A
ENST00000616242.4:c.949G>A	ENSP00000482149.1:p.Gly317Arg
NM_000162.3:c.952G>A	NP_000153.1:p.Gly318Arg
NM_033507.1:c.955G>A	NP_277042.1:p.Gly319Arg
NM_033508.1:c.949G>A	NP_277043.1:p.Gly317Arg
NM_000162.4:c.952G>A	NP_000153.1:p.Gly318Arg
NM_001354800.1:c.952G>A	NP_001341729.1:p.Gly318Arg
NM_001354801.1:c.8+89G>A	NP_001341730.1:n.8+89G>A
NM_033507.2:c.955G>A	NP_277042.1:p.Gly319Arg
NM_033508.2:c.949G>A	NP_277043.1:p.Gly317Arg
NM_000162.5:c.952G>A MANE Select	NP_000153.1:p.Gly318Arg
NM_033507.3:c.955G>A	NP_277042.1:p.Gly319Arg
NM_033508.3:c.949G>A	NP_277043.1:p.Gly317Arg