Canonical Allele Identifier: CA96884105
Gene: KDR HGNC NCBI

Linked Data

dbSNP Id: rs183538124
gnomAD v2: 4-55957641-C-T
gnomAD v3: 4-55091474-C-T
gnomAD v4: 4-55091474-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55091474C>T , CM000666.2:g.55091474C>T GRCh38
NC_000004.11:g.55957641C>T , CM000666.1:g.55957641C>T GRCh37
NC_000004.10:g.55652398C>T NCBI36
NG_012004.1:g.39122G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263923.5:c.3069+1143G>A MANE Select ENSP00000263923.4:n.3069+1143G>A
ENST00000647068.1:n.3082+1143G>A
ENST00000263923.4:c.3069+1143G>A ENSP00000263923.4:n.3069+1143G>A
NM_002253.2:c.3069+1143G>A NP_002244.1:n.3069+1143G>A
NM_002253.3:c.3069+1143G>A NP_002244.1:n.3069+1143G>A
NM_002253.4:c.3069+1143G>A MANE Select NP_002244.1:n.3069+1143G>A