Canonical Allele Identifier: CA551381355
Gene: KDR HGNC NCBI

Linked Data

dbSNP Id: rs1260703182
gnomAD v2: 4-55978942-C-T
gnomAD v3: 4-55112775-C-T
gnomAD v4: 4-55112775-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55112775C>T , CM000666.2:g.55112775C>T GRCh38
NC_000004.11:g.55978942C>T , CM000666.1:g.55978942C>T GRCh37
NC_000004.10:g.55673699C>T NCBI36
NG_012004.1:g.17821G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263923.5:c.976+529G>A MANE Select ENSP00000263923.4:n.976+529G>A
ENST00000647068.1:n.989+529G>A
ENST00000263923.4:c.976+529G>A ENSP00000263923.4:n.976+529G>A
ENST00000512566.1:n.976+529G>A
NM_002253.2:c.976+529G>A NP_002244.1:n.976+529G>A
NM_002253.3:c.976+529G>A NP_002244.1:n.976+529G>A
NM_002253.4:c.976+529G>A MANE Select NP_002244.1:n.976+529G>A