Canonical Allele Identifier: CA2923989

Gene: KDR

Linked Data

• ClinVar Variation Id: 518355
• ClinVar RCV Id: RCV000612206
• dbSNP Id: rs2412617
• ExAC: 4:55948108 A / G
• gnomAD v2: 4-55948108-A-G
• gnomAD v3: 4-55081941-A-G
• gnomAD v4: 4-55081941-A-G
• MyVariant Identifiers: chr4:g.55948108A>G (hg19) ; chr4:g.55081941A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55081941A>G , CM000666.2:g.55081941A>G	GRCh38
NC_000004.11:g.55948108A>G , CM000666.1:g.55948108A>G	GRCh37
NC_000004.10:g.55642865A>G	NCBI36
NG_012004.1:g.48655T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263923.5:c.3848+15T>C MANE Select	ENSP00000263923.4:n.3848+15T>C
ENST00000647068.1:n.3861+15T>C
ENST00000263923.4:c.3848+15T>C	ENSP00000263923.4:n.3848+15T>C
NM_002253.2:c.3848+15T>C	NP_002244.1:n.3848+15T>C
NM_002253.3:c.3848+15T>C	NP_002244.1:n.3848+15T>C
NM_002253.4:c.3848+15T>C MANE Select	NP_002244.1:n.3848+15T>C