Canonical Allele Identifier: CA160319
Gene: KDR HGNC NCBI

Linked Data

ClinVar Variation Id: 134607
ClinVar RCV Id: RCV000121298
dbSNP Id: rs587778425
gnomAD v2: 4-55964932-C-T
gnomAD v4: 4-55098765-C-T
MyVariant Identifiers: chr4:g.55964932C>T (hg19) chr4:g.55098765C>T (hg38)
PubMed: PMID:24728327
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55098765C>T , CM000666.2:g.55098765C>T GRCh38
NC_000004.11:g.55964932C>T , CM000666.1:g.55964932C>T GRCh37
NC_000004.10:g.55659689C>T NCBI36
NG_012004.1:g.31831G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263923.5:c.2305G>A MANE Select ENSP00000263923.4:p.Val769Ile
ENST00000647068.1:n.2318G>A
ENST00000263923.4:c.2305G>A ENSP00000263923.4:p.Val769Ile
NM_002253.2:c.2305G>A NP_002244.1:p.Val769Ile
NM_002253.3:c.2305G>A NP_002244.1:p.Val769Ile
NM_002253.4:c.2305G>A MANE Select NP_002244.1:p.Val769Ile
Search 100 bp 5'
Search 100 bp 3'