Canonical Allele Identifier: CA160311
Gene: KDR HGNC NCBI

Linked Data

ClinVar Variation Id: 134603
ClinVar RCV Id: RCV000121293
dbSNP Id: rs1870377
gnomAD v2: 4-55972974-T-A
gnomAD v3: 4-55106807-T-A
gnomAD v4: 4-55106807-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55106807T>A , CM000666.2:g.55106807T>A GRCh38
NC_000004.11:g.55972974T>A , CM000666.1:g.55972974T>A GRCh37
NC_000004.10:g.55667731T>A NCBI36
NG_012004.1:g.23789A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263923.5:c.1416A>T MANE Select ENSP00000263923.4:p.Gln472His
ENST00000647068.1:n.1429A>T
ENST00000263923.4:c.1416A>T ENSP00000263923.4:p.Gln472His
ENST00000512566.1:n.1416A>T
NM_002253.2:c.1416A>T NP_002244.1:p.Gln472His
NM_002253.3:c.1416A>T NP_002244.1:p.Gln472His
NM_002253.4:c.1416A>T MANE Select NP_002244.1:p.Gln472His