Canonical Allele Identifier: CA497546905
Gene: PFN1 HGNC NCBI

Linked Data

dbSNP Id: rs1971377332
MyVariant Identifiers: chr17:g.4849264A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945969A>G , CM000679.2:g.4945969A>G GRCh38
NC_000017.10:g.4849264A>G , CM000679.1:g.4849264A>G GRCh37
NC_000017.9:g.4790009A>G NCBI36
NG_012063.2:g.4879A>G
NG_032945.1:g.8118T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.354T>C MANE Select ENSP00000225655.5:p.Gly118=
ENST00000225655.5:c.354T>C ENSP00000225655.5:p.Gly118=
ENST00000574872.1:c.246T>C ENSP00000465019.1:p.Gly82=
NM_005022.3:c.354T>C NP_005013.1:p.Gly118=
XM_017024761.1:c.*438T>C XP_016880250.1:n.*438T>C
NM_001375991.1:c.*438T>C NP_001362920.1:n.*438T>C
NM_005022.4:c.354T>C MANE Select NP_005013.1:p.Gly118=