Canonical Allele Identifier: CA772687416
Gene: PFN1 HGNC NCBI

Linked Data

dbSNP Id: rs1360989463
gnomAD v3: 17-4946072-C-T
gnomAD v4: 17-4946072-C-T
MyVariant Identifiers: chr17:g.4849367C>T (hg19) chr17:g.4946072C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4946072C>T , CM000679.2:g.4946072C>T GRCh38
NC_000017.10:g.4849367C>T , CM000679.1:g.4849367C>T GRCh37
NC_000017.9:g.4790112C>T NCBI36
NG_012063.2:g.4982C>T
NG_032945.1:g.8015G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.326-75G>A MANE Select ENSP00000225655.5:n.326-75G>A
ENST00000225655.5:c.326-75G>A ENSP00000225655.5:n.326-75G>A
ENST00000574872.1:c.218-75G>A ENSP00000465019.1:n.218-75G>A
NM_005022.3:c.326-75G>A NP_005013.1:n.326-75G>A
XM_017024761.1:c.*335G>A XP_016880250.1:n.*335G>A
NM_001375991.1:c.*335G>A NP_001362920.1:n.*335G>A
NM_005022.4:c.326-75G>A MANE Select NP_005013.1:n.326-75G>A
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