Canonical Allele Identifier: CA2244642546
Gene: PFN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945963G= , CM000679.2:g.4945963G= GRCh38
NC_000017.10:g.4849258G= , CM000679.1:g.4849258G= GRCh37
NC_000017.9:g.4790003G= NCBI36
NG_012063.2:g.4873G=
NG_032945.1:g.8124C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.360C= MANE Select ENSP00000225655.5:p.His120=
ENST00000225655.5:c.360C= ENSP00000225655.5:p.His120=
ENST00000574872.1:c.252C= ENSP00000465019.1:p.His84=
NM_005022.3:c.360C= NP_005013.1:p.His120=
XM_017024761.1:c.*444C= XP_016880250.1:n.*444C=
NM_001375991.1:c.*444C= NP_001362920.1:n.*444C=
NM_005022.4:c.360C= MANE Select NP_005013.1:p.His120=