Canonical Allele Identifier: CA356914955
Gene: KDR HGNC NCBI

Linked Data

dbSNP Id: rs2305948
gnomAD v2: 4-55979558-C-A
gnomAD v4: 4-55113391-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55113391C>A , CM000666.2:g.55113391C>A GRCh38
NC_000004.11:g.55979558C>A , CM000666.1:g.55979558C>A GRCh37
NC_000004.10:g.55674315C>A NCBI36
NG_012004.1:g.17205G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263923.5:c.889G>T MANE Select ENSP00000263923.4:p.Val297Leu
ENST00000647068.1:n.902G>T
ENST00000263923.4:c.889G>T ENSP00000263923.4:p.Val297Leu
ENST00000512566.1:n.889G>T
NM_002253.2:c.889G>T NP_002244.1:p.Val297Leu
NM_002253.3:c.889G>T NP_002244.1:p.Val297Leu
NM_002253.4:c.889G>T MANE Select NP_002244.1:p.Val297Leu