Canonical Allele Identifier: CA122126

Gene: KDR

Linked Data

• ClinVar Variation Id: 12317
• ClinVar RCV Id: RCV000013110 ; RCV000121300
• dbSNP Id: rs121917766
• ExAC: 4:55955106 G / A
• gnomAD v2: 4-55955106-G-A
• gnomAD v3: 4-55088939-G-A
• gnomAD v4: 4-55088939-G-A
• MyVariant Identifiers: chr4:g.55955106G>A (hg19) ; chr4:g.55088939G>A (hg38)
• PubMed: PMID:11807987 ; PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55088939G>A , CM000666.2:g.55088939G>A	GRCh38
NC_000004.11:g.55955106G>A , CM000666.1:g.55955106G>A	GRCh37
NC_000004.10:g.55649863G>A	NCBI36
NG_012004.1:g.41657C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263923.5:c.3439C>T MANE Select	ENSP00000263923.4:p.Pro1147Ser
ENST00000647068.1:n.3452C>T
ENST00000263923.4:c.3439C>T	ENSP00000263923.4:p.Pro1147Ser
NM_002253.2:c.3439C>T	NP_002244.1:p.Pro1147Ser
NM_002253.3:c.3439C>T	NP_002244.1:p.Pro1147Ser
NM_002253.4:c.3439C>T MANE Select	NP_002244.1:p.Pro1147Ser