Canonical Allele Identifier: CA2576136442
Gene: PFN1 HGNC NCBI

Linked Data

gnomAD v4: 17-4945853-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945853G>T , CM000679.2:g.4945853G>T GRCh38
NC_000017.10:g.4849148G>T , CM000679.1:g.4849148G>T GRCh37
NC_000017.9:g.4789893G>T NCBI36
NG_012063.2:g.4763G>T
NG_032945.1:g.8234C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.*47C>A MANE Select ENSP00000225655.5:n.*47C>A
ENST00000225655.5:c.*47C>A ENSP00000225655.5:n.*47C>A
ENST00000574872.1:c.*47C>A ENSP00000465019.1:n.*47C>A
NM_005022.3:c.*47C>A NP_005013.1:n.*47C>A
XM_017024761.1:c.*554C>A XP_016880250.1:n.*554C>A
NM_001375991.1:c.*554C>A NP_001362920.1:n.*554C>A
NM_005022.4:c.*47C>A MANE Select NP_005013.1:n.*47C>A
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