Canonical Allele Identifier: CA2635582850
Gene: PFN1 HGNC NCBI

Linked Data

gnomAD v4: 17-4945823-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945823A>T , CM000679.2:g.4945823A>T GRCh38
NC_000017.10:g.4849118A>T , CM000679.1:g.4849118A>T GRCh37
NC_000017.9:g.4789863A>T NCBI36
NG_012063.2:g.4733A>T
NG_032945.1:g.8264T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.*77T>A MANE Select ENSP00000225655.5:n.*77T>A
ENST00000225655.5:c.*77T>A ENSP00000225655.5:n.*77T>A
ENST00000574872.1:c.*77T>A ENSP00000465019.1:n.*77T>A
NM_005022.3:c.*77T>A NP_005013.1:n.*77T>A
XM_017024761.1:c.*584T>A XP_016880250.1:n.*584T>A
NM_001375991.1:c.*584T>A NP_001362920.1:n.*584T>A
NM_005022.4:c.*77T>A MANE Select NP_005013.1:n.*77T>A
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