Canonical Allele Identifier: CA2924829
Gene: KDR HGNC NCBI

Linked Data

dbSNP Id: rs762537157
gnomAD v2: 4-55976862-G-T
gnomAD v4: 4-55110695-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55110695G>T , CM000666.2:g.55110695G>T GRCh38
NC_000004.11:g.55976862G>T , CM000666.1:g.55976862G>T GRCh37
NC_000004.10:g.55671619G>T NCBI36
NG_012004.1:g.19901C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263923.5:c.1050C>A MANE Select ENSP00000263923.4:p.Ile350=
ENST00000647068.1:n.1063C>A
ENST00000263923.4:c.1050C>A ENSP00000263923.4:p.Ile350=
ENST00000512566.1:n.1050C>A
NM_002253.2:c.1050C>A NP_002244.1:p.Ile350=
NM_002253.3:c.1050C>A NP_002244.1:p.Ile350=
NM_002253.4:c.1050C>A MANE Select NP_002244.1:p.Ile350=