Canonical Allele Identifier: CA174411

Gene: KDR

Linked Data

• ClinVar Variation Id: 161593
• ClinVar RCV Id: RCV000149129
• dbSNP Id: rs193921127
• ExAC: 4:55964877 C / T
• gnomAD v2: 4-55964877-C-T
• gnomAD v3: 4-55098710-C-T
• gnomAD v4: 4-55098710-C-T
• COSMIC: COSM1179566
• MyVariant Identifiers: chr4:g.55964877C>T (hg19) ; chr4:g.55098710C>T (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55098710C>T , CM000666.2:g.55098710C>T	GRCh38
NC_000004.11:g.55964877C>T , CM000666.1:g.55964877C>T	GRCh37
NC_000004.10:g.55659634C>T	NCBI36
NG_012004.1:g.31886G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263923.5:c.2360G>A MANE Select	ENSP00000263923.4:p.Arg787Gln
ENST00000647068.1:n.2373G>A
ENST00000263923.4:c.2360G>A	ENSP00000263923.4:p.Arg787Gln
NM_002253.2:c.2360G>A	NP_002244.1:p.Arg787Gln
NM_002253.3:c.2360G>A	NP_002244.1:p.Arg787Gln
NM_002253.4:c.2360G>A MANE Select	NP_002244.1:p.Arg787Gln