Canonical Allele Identifier: CA160317
Gene: KDR HGNC NCBI

Linked Data

ClinVar Variation Id: 134606
ClinVar RCV Id: RCV000121297 RCV000201301 RCV000861134
dbSNP Id: rs34038364
ExAC: 4:55968597 G / A
gnomAD v2: 4-55968597-G-A
gnomAD v3: 4-55102430-G-A
gnomAD v4: 4-55102430-G-A
MyVariant Identifiers: chr4:g.55968597G>A (hg19) chr4:g.55102430G>A (hg38)
PubMed: PMID:24728327
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55102430G>A , CM000666.2:g.55102430G>A GRCh38
NC_000004.11:g.55968597G>A , CM000666.1:g.55968597G>A GRCh37
NC_000004.10:g.55663354G>A NCBI36
NG_012004.1:g.28166C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263923.5:c.2066C>T MANE Select ENSP00000263923.4:p.Thr689Met
ENST00000647068.1:n.2079C>T
ENST00000263923.4:c.2066C>T ENSP00000263923.4:p.Thr689Met
NM_002253.2:c.2066C>T NP_002244.1:p.Thr689Met
NM_002253.3:c.2066C>T NP_002244.1:p.Thr689Met
NM_002253.4:c.2066C>T MANE Select NP_002244.1:p.Thr689Met
Search 100 bp 5'
Search 100 bp 3'