Canonical Allele Identifier: CA160337
Gene: KDR HGNC NCBI
COSMIC:
COSM1131107 (not active)
MyVariant.info:
GRCh38 chr4:g.55113391C>T
GRCh37 chr4:g.55979558C>T
Revel Score:
ENST00000263923 (MANE Select) 0.161
gnomAD v2:
4:55979558 C / T
gnomAD v3:
4:55113391 C / T
gnomAD v4:
chr4-55113391-C-T
Joint Max Group AF 0.23630811 (AFR)
Genomes Max Group AF 0.23523787 (AFR)
Exomes Max Group AF 0.23493853 (AFR)
ClinVar RCV:
RCV000121308
RCV003975078
ClinVar Variation:
134616
dbSNP:
2305948
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55113391C>T , CM000666.2:g.55113391C>T GRCh38
NC_000004.11:g.55979558C>T , CM000666.1:g.55979558C>T GRCh37
NC_000004.10:g.55674315C>T NCBI36
NG_012004.1:g.17205G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263923.5:c.889G>A MANE Select ENSP00000263923.4:p.Val297Ile
ENST00000647068.1:n.902G>A
ENST00000263923.4:c.889G>A ENSP00000263923.4:p.Val297Ile
ENST00000512566.1:n.889G>A
NM_002253.2:c.889G>A NP_002244.1:p.Val297Ile
NM_002253.3:c.889G>A NP_002244.1:p.Val297Ile
NM_002253.4:c.889G>A MANE Select NP_002244.1:p.Val297Ile
Search 100 bp 5'
Search 100 bp 3'