Canonical Allele Identifier: CA397337973
Gene: PFN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.4849197A>C (hg19) chr17:g.4945902A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945902A>C , CM000679.2:g.4945902A>C GRCh38
NC_000017.10:g.4849197A>C , CM000679.1:g.4849197A>C GRCh37
NC_000017.9:g.4789942A>C NCBI36
NG_012063.2:g.4812A>C
NG_032945.1:g.8185T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.421T>G MANE Select ENSP00000225655.5:p.Ter141Gly
ENST00000225655.5:c.421T>G ENSP00000225655.5:p.Ter141Gly
ENST00000574872.1:c.313T>G ENSP00000465019.1:p.Ter105Gly
NM_005022.3:c.421T>G NP_005013.1:p.Ter141Gly
XM_017024761.1:c.*505T>G XP_016880250.1:n.*505T>G
NM_001375991.1:c.*505T>G NP_001362920.1:n.*505T>G
NM_005022.4:c.421T>G MANE Select NP_005013.1:p.Ter141Gly
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