Canonical Allele Identifier: CA160315

Gene: KDR

Linked Data

• ClinVar Variation Id: 134605
• ClinVar RCV Id: RCV000121296 ; RCV000862412
• dbSNP Id: rs55716939
• ExAC: 4:55972029 C / T
• gnomAD v2: 4-55972029-C-T
• gnomAD v3: 4-55105862-C-T
• gnomAD v4: 4-55105862-C-T
• COSMIC: COSM4125180
• MyVariant Identifiers: chr4:g.55972029C>T (hg19) ; chr4:g.55105862C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55105862C>T , CM000666.2:g.55105862C>T	GRCh38
NC_000004.11:g.55972029C>T , CM000666.1:g.55972029C>T	GRCh37
NC_000004.10:g.55666786C>T	NCBI36
NG_012004.1:g.24734G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263923.5:c.1615G>A MANE Select	ENSP00000263923.4:p.Gly539Arg
ENST00000647068.1:n.1628G>A
ENST00000263923.4:c.1615G>A	ENSP00000263923.4:p.Gly539Arg
ENST00000512566.1:n.1615G>A
NM_002253.2:c.1615G>A	NP_002244.1:p.Gly539Arg
NM_002253.3:c.1615G>A	NP_002244.1:p.Gly539Arg
NM_002253.4:c.1615G>A MANE Select	NP_002244.1:p.Gly539Arg