Canonical Allele Identifier: CA2244642502
Gene: PFN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945921G= , CM000679.2:g.4945921G= GRCh38
NC_000017.10:g.4849216G= , CM000679.1:g.4849216G= GRCh37
NC_000017.9:g.4789961G= NCBI36
NG_012063.2:g.4831G=
NG_032945.1:g.8166C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.402C= MANE Select ENSP00000225655.5:p.His134=
ENST00000225655.5:c.402C= ENSP00000225655.5:p.His134=
ENST00000574872.1:c.294C= ENSP00000465019.1:p.His98=
NM_005022.3:c.402C= NP_005013.1:p.His134=
XM_017024761.1:c.*486C= XP_016880250.1:n.*486C=
NM_001375991.1:c.*486C= NP_001362920.1:n.*486C=
NM_005022.4:c.402C= MANE Select NP_005013.1:p.His134=