Canonical Allele Identifier: CA551381343
Gene: KDR HGNC NCBI

Linked Data

dbSNP Id: rs1412403359
gnomAD v2: 4-55978819-C-A
gnomAD v3: 4-55112652-C-A
gnomAD v4: 4-55112652-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55112652C>A , CM000666.2:g.55112652C>A GRCh38
NC_000004.11:g.55978819C>A , CM000666.1:g.55978819C>A GRCh37
NC_000004.10:g.55673576C>A NCBI36
NG_012004.1:g.17944G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263923.5:c.976+652G>T MANE Select ENSP00000263923.4:n.976+652G>T
ENST00000647068.1:n.989+652G>T
ENST00000263923.4:c.976+652G>T ENSP00000263923.4:n.976+652G>T
ENST00000512566.1:n.976+652G>T
NM_002253.2:c.976+652G>T NP_002244.1:n.976+652G>T
NM_002253.3:c.976+652G>T NP_002244.1:n.976+652G>T
NM_002253.4:c.976+652G>T MANE Select NP_002244.1:n.976+652G>T