Canonical Allele Identifier: CA497546892
Gene: PFN1 HGNC NCBI

Linked Data

dbSNP Id: rs1395335798
gnomAD v2: 17-4849246-G-T
gnomAD v4: 17-4945951-G-T
MyVariant Identifiers: chr17:g.4849246G>T (hg19) chr17:g.4945951G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945951G>T , CM000679.2:g.4945951G>T GRCh38
NC_000017.10:g.4849246G>T , CM000679.1:g.4849246G>T GRCh37
NC_000017.9:g.4789991G>T NCBI36
NG_012063.2:g.4861G>T
NG_032945.1:g.8136C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.372C>A MANE Select ENSP00000225655.5:p.Ile124=
ENST00000225655.5:c.372C>A ENSP00000225655.5:p.Ile124=
ENST00000574872.1:c.264C>A ENSP00000465019.1:p.Ile88=
NM_005022.3:c.372C>A NP_005013.1:p.Ile124=
XM_017024761.1:c.*456C>A XP_016880250.1:n.*456C>A
NM_001375991.1:c.*456C>A NP_001362920.1:n.*456C>A
NM_005022.4:c.372C>A MANE Select NP_005013.1:p.Ile124=
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