Canonical Allele Identifier: CA8315892
Gene: PFN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1167768
ClinVar RCV Id: RCV001517400 RCV003948534
dbSNP Id: rs145109002
ExAC: 17:4849219 G / A
gnomAD v2: 17-4849219-G-A
gnomAD v3: 17-4945924-G-A
gnomAD v4: 17-4945924-G-A
MyVariant Identifiers: chr17:g.4849219G>A (hg19) chr17:g.4945924G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945924G>A , CM000679.2:g.4945924G>A GRCh38
NC_000017.10:g.4849219G>A , CM000679.1:g.4849219G>A GRCh37
NC_000017.9:g.4789964G>A NCBI36
NG_012063.2:g.4834G>A
NG_032945.1:g.8163C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.399C>T MANE Select ENSP00000225655.5:p.Ser133=
ENST00000225655.5:c.399C>T ENSP00000225655.5:p.Ser133=
ENST00000574872.1:c.291C>T ENSP00000465019.1:p.Ser97=
NM_005022.3:c.399C>T NP_005013.1:p.Ser133=
XM_017024761.1:c.*483C>T XP_016880250.1:n.*483C>T
NM_001375991.1:c.*483C>T NP_001362920.1:n.*483C>T
NM_005022.4:c.399C>T MANE Select NP_005013.1:p.Ser133=
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