Canonical Allele Identifier: CA8315898
Gene: PFN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 259607
ClinVar RCV Id: RCV000250149 RCV001515941 RCV001788126
dbSNP Id: rs13204
ExAC: 17:4849284 G / A
gnomAD v2: 17-4849284-G-A
gnomAD v3: 17-4945989-G-A
gnomAD v4: 17-4945989-G-A
MyVariant Identifiers: chr17:g.4849284G>A (hg19) chr17:g.4945989G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945989G>A , CM000679.2:g.4945989G>A GRCh38
NC_000017.10:g.4849284G>A , CM000679.1:g.4849284G>A GRCh37
NC_000017.9:g.4790029G>A NCBI36
NG_012063.2:g.4899G>A
NG_032945.1:g.8098C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000225655.6:c.334C>T MANE Select ENSP00000225655.5:p.Leu112=
ENST00000225655.5:c.334C>T ENSP00000225655.5:p.Leu112=
ENST00000574872.1:c.226C>T ENSP00000465019.1:p.Leu76=
NM_005022.3:c.334C>T NP_005013.1:p.Leu112=
XM_017024761.1:c.*418C>T XP_016880250.1:n.*418C>T
NM_001375991.1:c.*418C>T NP_001362920.1:n.*418C>T
NM_005022.4:c.334C>T MANE Select NP_005013.1:p.Leu112=
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