Canonical Allele Identifier: CA8315890
Gene: PFN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1601275
ClinVar RCV Id: RCV002125012
dbSNP Id: rs2233657
ExAC: 17:4849201 C / T
gnomAD v2: 17-4849201-C-T
gnomAD v3: 17-4945906-C-T
gnomAD v4: 17-4945906-C-T
MyVariant Identifiers: chr17:g.4849201C>T (hg19) chr17:g.4945906C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945906C>T , CM000679.2:g.4945906C>T GRCh38
NC_000017.10:g.4849201C>T , CM000679.1:g.4849201C>T GRCh37
NC_000017.9:g.4789946C>T NCBI36
NG_012063.2:g.4816C>T
NG_032945.1:g.8181G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.417G>A MANE Select ENSP00000225655.5:p.Gln139=
ENST00000225655.5:c.417G>A ENSP00000225655.5:p.Gln139=
ENST00000574872.1:c.309G>A ENSP00000465019.1:p.Gln103=
NM_005022.3:c.417G>A NP_005013.1:p.Gln139=
XM_017024761.1:c.*501G>A XP_016880250.1:n.*501G>A
NM_001375991.1:c.*501G>A NP_001362920.1:n.*501G>A
NM_005022.4:c.417G>A MANE Select NP_005013.1:p.Gln139=
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