Canonical Allele Identifier: CA397337959
Gene: PFN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.4849195T>C (hg19) chr17:g.4945900T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945900T>C , CM000679.2:g.4945900T>C GRCh38
NC_000017.10:g.4849195T>C , CM000679.1:g.4849195T>C GRCh37
NC_000017.9:g.4789940T>C NCBI36
NG_012063.2:g.4810T>C
NG_032945.1:g.8187A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.423A>G MANE Select ENSP00000225655.5:p.Ter141Trp
ENST00000225655.5:c.423A>G ENSP00000225655.5:p.Ter141Trp
ENST00000574872.1:c.315A>G ENSP00000465019.1:p.Ter105Trp
NM_005022.3:c.423A>G NP_005013.1:p.Ter141Trp
XM_017024761.1:c.*507A>G XP_016880250.1:n.*507A>G
NM_001375991.1:c.*507A>G NP_001362920.1:n.*507A>G
NM_005022.4:c.423A>G MANE Select NP_005013.1:p.Ter141Trp
Search 100 bp 5'
Search 100 bp 3'