Canonical Allele Identifier: CA2244642681
Gene: PFN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4946007G= , CM000679.2:g.4946007G= GRCh38
NC_000017.10:g.4849302G= , CM000679.1:g.4849302G= GRCh37
NC_000017.9:g.4790047G= NCBI36
NG_012063.2:g.4917G=
NG_032945.1:g.8080C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.326-10C= MANE Select ENSP00000225655.5:n.326-10C=
ENST00000225655.5:c.326-10C= ENSP00000225655.5:n.326-10C=
ENST00000574872.1:c.218-10C= ENSP00000465019.1:n.218-10C=
NM_005022.3:c.326-10C= NP_005013.1:n.326-10C=
XM_017024761.1:c.*400C= XP_016880250.1:n.*400C=
NM_001375991.1:c.*400C= NP_001362920.1:n.*400C=
NM_005022.4:c.326-10C= MANE Select NP_005013.1:n.326-10C=
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