Canonical Allele Identifier: CA160311
Gene: KDR HGNC NCBI
COSMIC:
COSM149673 (not active)
MyVariant.info:
GRCh38 chr4:g.55106807T>A
GRCh37 chr4:g.55972974T>A
Revel Score:
ENST00000263923 (MANE Select) 0.170
gnomAD v2:
4:55972974 T / A
gnomAD v3:
4:55106807 T / A
gnomAD v4:
chr4-55106807-T-A
Joint Max Group AF 0.43376176 (EAS)
Genomes Max Group AF 0.45172143 (EAS)
Exomes Max Group AF 0.42975845 (EAS)
ClinVar RCV:
RCV000121293
RCV003975077
ClinVar Variation:
134603
dbSNP:
1870377
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'