Canonical Allele Identifier: CA163009

Gene: KDR

Linked Data

• ClinVar Variation Id: 135552
• ClinVar RCV Id: RCV000122412 ; RCV003975091
• dbSNP Id: rs56233104
• ExAC: 4:55991461 C / A
• gnomAD v2: 4-55991461-C-A
• gnomAD v3: 4-55125294-C-A
• gnomAD v4: 4-55125294-C-A
• MyVariant Identifiers: chr4:g.55991461C>A (hg19) ; chr4:g.55125294C>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55125294C>A , CM000666.2:g.55125294C>A	GRCh38
NC_000004.11:g.55991461C>A , CM000666.1:g.55991461C>A	GRCh37
NC_000004.10:g.55686218C>A	NCBI36
NG_012004.1:g.5302G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263923.5:c.-1G>T MANE Select	ENSP00000263923.4:n.-1G>T
ENST00000263923.4:c.-1G>T	ENSP00000263923.4:n.-1G>T
NM_002253.2:c.-1G>T	NP_002244.1:n.-1G>T
NM_002253.3:c.-1G>T	NP_002244.1:n.-1G>T
NM_002253.4:c.-1G>T MANE Select	NP_002244.1:n.-1G>T