Canonical Allele Identifier: CA251270

Gene: KDR

Linked Data

• ClinVar Variation Id: 204338
• ClinVar RCV Id: RCV000186529
• dbSNP Id: rs761176323
• ExAC: 4:55955058 G / A
• gnomAD v2: 4-55955058-G-A
• gnomAD v4: 4-55088891-G-A
• MyVariant Identifiers: chr4:g.55955058G>A (hg19) ; chr4:g.55088891G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55088891G>A , CM000666.2:g.55088891G>A	GRCh38
NC_000004.11:g.55955058G>A , CM000666.1:g.55955058G>A	GRCh37
NC_000004.10:g.55649815G>A	NCBI36
NG_012004.1:g.41705C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263923.5:c.3487C>T MANE Select	ENSP00000263923.4:p.Leu1163Phe
ENST00000647068.1:n.3500C>T
ENST00000263923.4:c.3487C>T	ENSP00000263923.4:p.Leu1163Phe
NM_002253.2:c.3487C>T	NP_002244.1:p.Leu1163Phe
NM_002253.3:c.3487C>T	NP_002244.1:p.Leu1163Phe
NM_002253.4:c.3487C>T MANE Select	NP_002244.1:p.Leu1163Phe