Canonical Allele Identifier: CA367400050

Gene: GCK

Linked Data

• ClinVar Variation Id: 447424
• ClinVar RCV Id: RCV000517815
• dbSNP Id: rs1312678560
• gnomAD v4: 7-44146574-C-A
• MyVariant Identifiers: chr7:g.44186173C>A (hg19) ; chr7:g.44146574C>A (hg38)
• PubMed: PMID:25921421

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146574C>A , CM000669.2:g.44146574C>A	GRCh38
NC_000007.13:g.44186173C>A , CM000669.1:g.44186173C>A	GRCh37
NC_000007.12:g.44152698C>A	NCBI36
NG_008847.1:g.47850G>T
NG_008847.2:g.56597G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*906G>T	ENSP00000379142.4:n.*906G>T
ENST00000616242.5:c.*28G>T	ENSP00000482149.2:n.*28G>T
ENST00000683378.1:n.134G>T
ENST00000345378.7:c.911G>T	ENSP00000223366.2:p.Arg304Leu
ENST00000403799.8:c.908G>T MANE Select	ENSP00000384247.3:p.Arg303Leu
ENST00000671824.1:c.971G>T	ENSP00000500264.1:p.Arg324Leu
ENST00000673284.1:c.908G>T	ENSP00000499852.1:p.Arg303Leu
ENST00000345378.6:c.911G>T	ENSP00000223366.2:p.Arg304Leu
ENST00000395796.7:c.905G>T	ENSP00000379142.3:p.Arg302Leu
ENST00000403799.7:c.908G>T	ENSP00000384247.3:p.Arg303Leu
ENST00000437084.1:c.857G>T	ENSP00000402840.1:p.Arg286Leu
ENST00000473353.1:n.206G>T
ENST00000616242.4:c.905G>T	ENSP00000482149.1:p.Arg302Leu
NM_000162.3:c.908G>T	NP_000153.1:p.Arg303Leu
NM_033507.1:c.911G>T	NP_277042.1:p.Arg304Leu
NM_033508.1:c.905G>T	NP_277043.1:p.Arg302Leu
NM_000162.4:c.908G>T	NP_000153.1:p.Arg303Leu
NM_001354800.1:c.908G>T	NP_001341729.1:p.Arg303Leu
NM_001354801.1:c.8+45G>T	NP_001341730.1:n.8+45G>T
NM_033507.2:c.911G>T	NP_277042.1:p.Arg304Leu
NM_033508.2:c.905G>T	NP_277043.1:p.Arg302Leu
NM_000162.5:c.908G>T MANE Select	NP_000153.1:p.Arg303Leu
NM_033507.3:c.911G>T	NP_277042.1:p.Arg304Leu
NM_033508.3:c.905G>T	NP_277043.1:p.Arg302Leu