Canonical Allele Identifier: CA8315882
Gene: PFN1 HGNC NCBI

Linked Data

dbSNP Id: rs751605549
ExAC: 17:4849173 G / A
gnomAD v2: 17-4849173-G-A
gnomAD v4: 17-4945878-G-A
MyVariant Identifiers: chr17:g.4849173G>A (hg19) chr17:g.4945878G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945878G>A , CM000679.2:g.4945878G>A GRCh38
NC_000017.10:g.4849173G>A , CM000679.1:g.4849173G>A GRCh37
NC_000017.9:g.4789918G>A NCBI36
NG_012063.2:g.4788G>A
NG_032945.1:g.8209C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.*22C>T MANE Select ENSP00000225655.5:n.*22C>T
ENST00000225655.5:c.*22C>T ENSP00000225655.5:n.*22C>T
ENST00000574872.1:c.*22C>T ENSP00000465019.1:n.*22C>T
NM_005022.3:c.*22C>T NP_005013.1:n.*22C>T
XM_017024761.1:c.*529C>T XP_016880250.1:n.*529C>T
NM_001375991.1:c.*529C>T NP_001362920.1:n.*529C>T
NM_005022.4:c.*22C>T MANE Select NP_005013.1:n.*22C>T
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