Canonical Allele Identifier: CA96884147
Gene: KDR HGNC NCBI

Linked Data

dbSNP Id: rs1026248950
gnomAD v2: 4-55957692-T-G
gnomAD v3: 4-55091525-T-G
gnomAD v4: 4-55091525-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55091525T>G , CM000666.2:g.55091525T>G GRCh38
NC_000004.11:g.55957692T>G , CM000666.1:g.55957692T>G GRCh37
NC_000004.10:g.55652449T>G NCBI36
NG_012004.1:g.39071A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263923.5:c.3069+1092A>C MANE Select ENSP00000263923.4:n.3069+1092A>C
ENST00000647068.1:n.3082+1092A>C
ENST00000263923.4:c.3069+1092A>C ENSP00000263923.4:n.3069+1092A>C
NM_002253.2:c.3069+1092A>C NP_002244.1:n.3069+1092A>C
NM_002253.3:c.3069+1092A>C NP_002244.1:n.3069+1092A>C
NM_002253.4:c.3069+1092A>C MANE Select NP_002244.1:n.3069+1092A>C