Canonical Allele Identifier: CA497546896
Gene: PFN1 HGNC NCBI

Linked Data

dbSNP Id: rs765843737
MyVariant Identifiers: chr17:g.4849252A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945957A>C , CM000679.2:g.4945957A>C GRCh38
NC_000017.10:g.4849252A>C , CM000679.1:g.4849252A>C GRCh37
NC_000017.9:g.4789997A>C NCBI36
NG_012063.2:g.4867A>C
NG_032945.1:g.8130T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.366T>G MANE Select ENSP00000225655.5:p.Gly122=
ENST00000225655.5:c.366T>G ENSP00000225655.5:p.Gly122=
ENST00000574872.1:c.258T>G ENSP00000465019.1:p.Gly86=
NM_005022.3:c.366T>G NP_005013.1:p.Gly122=
XM_017024761.1:c.*450T>G XP_016880250.1:n.*450T>G
NM_001375991.1:c.*450T>G NP_001362920.1:n.*450T>G
NM_005022.4:c.366T>G MANE Select NP_005013.1:p.Gly122=
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