Canonical Allele Identifier: CA96880715
Gene: KDR HGNC NCBI

Linked Data

dbSNP Id: rs1040828041
gnomAD v2: 4-55953482-C-T
gnomAD v3: 4-55087315-C-T
gnomAD v4: 4-55087315-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55087315C>T , CM000666.2:g.55087315C>T GRCh38
NC_000004.11:g.55953482C>T , CM000666.1:g.55953482C>T GRCh37
NC_000004.10:g.55648239C>T NCBI36
NG_012004.1:g.43281G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263923.5:c.3662+292G>A MANE Select ENSP00000263923.4:n.3662+292G>A
ENST00000647068.1:n.3675+292G>A
ENST00000263923.4:c.3662+292G>A ENSP00000263923.4:n.3662+292G>A
NM_002253.2:c.3662+292G>A NP_002244.1:n.3662+292G>A
NM_002253.3:c.3662+292G>A NP_002244.1:n.3662+292G>A
NM_002253.4:c.3662+292G>A MANE Select NP_002244.1:n.3662+292G>A