Canonical Allele Identifier: CA96908286
Gene: KDR HGNC NCBI

Linked Data

dbSNP Id: rs757598245
gnomAD v2: 4-55978993-G-A
gnomAD v3: 4-55112826-G-A
gnomAD v4: 4-55112826-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55112826G>A , CM000666.2:g.55112826G>A GRCh38
NC_000004.11:g.55978993G>A , CM000666.1:g.55978993G>A GRCh37
NC_000004.10:g.55673750G>A NCBI36
NG_012004.1:g.17770C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263923.5:c.976+478C>T MANE Select ENSP00000263923.4:n.976+478C>T
ENST00000647068.1:n.989+478C>T
ENST00000263923.4:c.976+478C>T ENSP00000263923.4:n.976+478C>T
ENST00000512566.1:n.976+478C>T
NM_002253.2:c.976+478C>T NP_002244.1:n.976+478C>T
NM_002253.3:c.976+478C>T NP_002244.1:n.976+478C>T
NM_002253.4:c.976+478C>T MANE Select NP_002244.1:n.976+478C>T