Canonical Allele Identifier: CA397338415
Gene: PFN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.4849294T>G (hg19) chr17:g.4945999T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945999T>G , CM000679.2:g.4945999T>G GRCh38
NC_000017.10:g.4849294T>G , CM000679.1:g.4849294T>G GRCh37
NC_000017.9:g.4790039T>G NCBI36
NG_012063.2:g.4909T>G
NG_032945.1:g.8088A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.326-2A>C MANE Select ENSP00000225655.5:n.326-2A>C
ENST00000225655.5:c.326-2A>C ENSP00000225655.5:n.326-2A>C
ENST00000574872.1:c.218-2A>C ENSP00000465019.1:n.218-2A>C
NM_005022.3:c.326-2A>C NP_005013.1:n.326-2A>C
XM_017024761.1:c.*408A>C XP_016880250.1:n.*408A>C
NM_001375991.1:c.*408A>C NP_001362920.1:n.*408A>C
NM_005022.4:c.326-2A>C MANE Select NP_005013.1:n.326-2A>C
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