Canonical Allele Identifier: CA551377384
Gene: KDR HGNC NCBI

Linked Data

dbSNP Id: rs1266082881
gnomAD v2: 4-55957638-T-C
gnomAD v3: 4-55091471-T-C
gnomAD v4: 4-55091471-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55091471T>C , CM000666.2:g.55091471T>C GRCh38
NC_000004.11:g.55957638T>C , CM000666.1:g.55957638T>C GRCh37
NC_000004.10:g.55652395T>C NCBI36
NG_012004.1:g.39125A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263923.5:c.3069+1146A>G MANE Select ENSP00000263923.4:n.3069+1146A>G
ENST00000647068.1:n.3082+1146A>G
ENST00000263923.4:c.3069+1146A>G ENSP00000263923.4:n.3069+1146A>G
NM_002253.2:c.3069+1146A>G NP_002244.1:n.3069+1146A>G
NM_002253.3:c.3069+1146A>G NP_002244.1:n.3069+1146A>G
NM_002253.4:c.3069+1146A>G MANE Select NP_002244.1:n.3069+1146A>G