Canonical Allele Identifier: CA122127

Gene: KDR

Linked Data

• ClinVar Variation Id: 12318
• ClinVar RCV Id: RCV000013111 ; RCV000121295 ; RCV001355593
• dbSNP Id: rs34231037
• ExAC: 4:55972946 A / G
• gnomAD v2: 4-55972946-A-G
• gnomAD v3: 4-55106779-A-G
• gnomAD v4: 4-55106779-A-G
• MyVariant Identifiers: chr4:g.55972946A>G (hg19) ; chr4:g.55106779A>G (hg38)
• PubMed: PMID:18931684 ; PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55106779A>G , CM000666.2:g.55106779A>G	GRCh38
NC_000004.11:g.55972946A>G , CM000666.1:g.55972946A>G	GRCh37
NC_000004.10:g.55667703A>G	NCBI36
NG_012004.1:g.23817T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263923.5:c.1444T>C MANE Select	ENSP00000263923.4:p.Cys482Arg
ENST00000647068.1:n.1457T>C
ENST00000263923.4:c.1444T>C	ENSP00000263923.4:p.Cys482Arg
ENST00000512566.1:n.1444T>C
NM_002253.2:c.1444T>C	NP_002244.1:p.Cys482Arg
NM_002253.3:c.1444T>C	NP_002244.1:p.Cys482Arg
NM_002253.4:c.1444T>C MANE Select	NP_002244.1:p.Cys482Arg