Canonical Allele Identifier: CA256947
Gene: PRF1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13714
ClinVar RCV Id: RCV000014714
dbSNP Id: rs104894182

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70598885C>T , CM000672.2:g.70598885C>T GRCh38
NC_000010.9:g.72028647C>T NCBI36
NC_000010.10:g.72358641C>T , CM000672.1:g.72358641C>T GRCh37
NG_009615.1:g.8891G>A , LRG_94:g.8891G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373209.2:c.836G>A ENSP00000362305.1:p.Cys279Tyr
ENST00000441259.1:c.836G>A ENSP00000398568.1:p.Cys279Tyr
NM_001083116.1:c.836G>A , LRG_94t1:c.836G>A NP_001076585.1:p.Cys279Tyr
NM_005041.4:c.836G>A NP_005032.2:p.Cys279Tyr