Canonical Allele Identifier: CA260575
Gene: PFN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 37034
ClinVar RCV Id: RCV000030694
dbSNP Id: rs387907264
MyVariant Identifiers: chr17:g.4850037A>C (hg19) chr17:g.4946742A>C (hg38)
PubMed: PMID:22801503
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4946742A>C , CM000679.2:g.4946742A>C GRCh38
NC_000017.10:g.4850037A>C , CM000679.1:g.4850037A>C GRCh37
NC_000017.9:g.4790782A>C NCBI36
NG_012063.2:g.5652A>C
NG_032945.1:g.7345T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000225655.6:c.211T>G MANE Select ENSP00000225655.5:p.Cys71Gly
ENST00000225655.5:c.211T>G ENSP00000225655.5:p.Cys71Gly
ENST00000572383.1:c.448T>G ENSP00000460363.1:p.Cys150Gly
ENST00000574872.1:c.103T>G ENSP00000465019.1:p.Cys35Gly
NM_005022.3:c.211T>G NP_005013.1:p.Cys71Gly
XM_017024761.1:c.211T>G XP_016880250.1:p.Cys71Gly
NM_001375991.1:c.211T>G NP_001362920.1:p.Cys71Gly
NM_005022.4:c.211T>G MANE Select NP_005013.1:p.Cys71Gly
Search 100 bp 5'
Search 100 bp 3'