Canonical Allele Identifier: CA551382419
Gene: KDR HGNC NCBI

Linked Data

dbSNP Id: rs7666097
gnomAD v2: 4-55991138-T-A
gnomAD v3: 4-55124971-T-A
gnomAD v4: 4-55124971-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55124971T>A , CM000666.2:g.55124971T>A GRCh38
NC_000004.11:g.55991138T>A , CM000666.1:g.55991138T>A GRCh37
NC_000004.10:g.55685895T>A NCBI36
NG_012004.1:g.5625A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263923.5:c.67+256A>T MANE Select ENSP00000263923.4:n.67+256A>T
ENST00000263923.4:c.67+256A>T ENSP00000263923.4:n.67+256A>T
ENST00000512566.1:n.67+256A>T
NM_002253.2:c.67+256A>T NP_002244.1:n.67+256A>T
NM_002253.3:c.67+256A>T NP_002244.1:n.67+256A>T
NM_002253.4:c.67+256A>T MANE Select NP_002244.1:n.67+256A>T