Canonical Allele Identifier: CA160339

Gene: KDR

Linked Data

• ClinVar Variation Id: 134617
• ClinVar RCV Id: RCV000121309 ; RCV000865154
• dbSNP Id: rs151317075
• ExAC: 4:55976857 G / A
• gnomAD v2: 4-55976857-G-A
• gnomAD v3: 4-55110690-G-A
• gnomAD v4: 4-55110690-G-A
• COSMIC: COSM42900
• MyVariant Identifiers: chr4:g.55976857G>A (hg19) ; chr4:g.55110690G>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55110690G>A , CM000666.2:g.55110690G>A	GRCh38
NC_000004.11:g.55976857G>A , CM000666.1:g.55976857G>A	GRCh37
NC_000004.10:g.55671614G>A	NCBI36
NG_012004.1:g.19906C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263923.5:c.1055C>T MANE Select	ENSP00000263923.4:p.Ala352Val
ENST00000647068.1:n.1068C>T
ENST00000263923.4:c.1055C>T	ENSP00000263923.4:p.Ala352Val
ENST00000512566.1:n.1055C>T
NM_002253.2:c.1055C>T	NP_002244.1:p.Ala352Val
NM_002253.3:c.1055C>T	NP_002244.1:p.Ala352Val
NM_002253.4:c.1055C>T MANE Select	NP_002244.1:p.Ala352Val