Canonical Allele Identifier: CA551377376
Gene: KDR HGNC NCBI

Linked Data

dbSNP Id: rs984490883
gnomAD v2: 4-55957484-T-G
gnomAD v3: 4-55091317-T-G
gnomAD v4: 4-55091317-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55091317T>G , CM000666.2:g.55091317T>G GRCh38
NC_000004.11:g.55957484T>G , CM000666.1:g.55957484T>G GRCh37
NC_000004.10:g.55652241T>G NCBI36
NG_012004.1:g.39279A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263923.5:c.3070-1239A>C MANE Select ENSP00000263923.4:n.3070-1239A>C
ENST00000647068.1:n.3083-1239A>C
ENST00000263923.4:c.3070-1239A>C ENSP00000263923.4:n.3070-1239A>C
NM_002253.2:c.3070-1239A>C NP_002244.1:n.3070-1239A>C
NM_002253.3:c.3070-1239A>C NP_002244.1:n.3070-1239A>C
NM_002253.4:c.3070-1239A>C MANE Select NP_002244.1:n.3070-1239A>C