×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA160335
Gene: KDR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134615
ClinVar RCV Id:
RCV000121307
dbSNP Id:
rs368062574
ExAC:
4:55979552 G / A
gnomAD v2:
4-55979552-G-A
gnomAD v3:
4-55113385-G-A
gnomAD v4:
4-55113385-G-A
MyVariant Identifiers:
chr4:g.55979552G>A (hg19)
chr4:g.55113385G>A (hg38)
PubMed:
PMID:24728327
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.55113385G>A , CM000666.2:g.55113385G>A
GRCh38
NC_000004.11:g.55979552G>A , CM000666.1:g.55979552G>A
GRCh37
NC_000004.10:g.55674309G>A
NCBI36
NG_012004.1:g.17211C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000263923.5:c.895C>T
MANE Select
ENSP00000263923.4:p.Arg299Trp
ENST00000647068.1:n.908C>T
ENST00000263923.4:c.895C>T
ENSP00000263923.4:p.Arg299Trp
ENST00000512566.1:n.895C>T
NM_002253.2:c.895C>T
NP_002244.1:p.Arg299Trp
NM_002253.3:c.895C>T
NP_002244.1:p.Arg299Trp
NM_002253.4:c.895C>T
MANE Select
NP_002244.1:p.Arg299Trp
Search 100 bp 5'
Search 100 bp 3'