Canonical Allele Identifier: CA96921439
Gene: KDR HGNC NCBI

Linked Data

dbSNP Id: rs990059980
gnomAD v2: 4-55991273-C-T
gnomAD v3: 4-55125106-C-T
gnomAD v4: 4-55125106-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55125106C>T , CM000666.2:g.55125106C>T GRCh38
NC_000004.11:g.55991273C>T , CM000666.1:g.55991273C>T GRCh37
NC_000004.10:g.55686030C>T NCBI36
NG_012004.1:g.5490G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263923.5:c.67+121G>A MANE Select ENSP00000263923.4:n.67+121G>A
ENST00000263923.4:c.67+121G>A ENSP00000263923.4:n.67+121G>A
ENST00000512566.1:n.67+121G>A
NM_002253.2:c.67+121G>A NP_002244.1:n.67+121G>A
NM_002253.3:c.67+121G>A NP_002244.1:n.67+121G>A
NM_002253.4:c.67+121G>A MANE Select NP_002244.1:n.67+121G>A