Canonical Allele Identifier: CA356898934
Gene: KDR HGNC NCBI

Linked Data

dbSNP Id: rs1490930990
gnomAD v2: 4-55948123-C-G
gnomAD v4: 4-55081956-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55081956C>G , CM000666.2:g.55081956C>G GRCh38
NC_000004.11:g.55948123C>G , CM000666.1:g.55948123C>G GRCh37
NC_000004.10:g.55642880C>G NCBI36
NG_012004.1:g.48640G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263923.5:c.3848G>C MANE Select ENSP00000263923.4:p.Gly1283Ala
ENST00000647068.1:n.3861G>C
ENST00000263923.4:c.3848G>C ENSP00000263923.4:p.Gly1283Ala
NM_002253.2:c.3848G>C NP_002244.1:p.Gly1283Ala
NM_002253.3:c.3848G>C NP_002244.1:p.Gly1283Ala
NM_002253.4:c.3848G>C MANE Select NP_002244.1:p.Gly1283Ala