Canonical Allele Identifier: CA397337986
Gene: PFN1 HGNC NCBI

Linked Data

gnomAD v4: 17-4945904-T-C
MyVariant Identifiers: chr17:g.4849199T>C (hg19) chr17:g.4945904T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945904T>C , CM000679.2:g.4945904T>C GRCh38
NC_000017.10:g.4849199T>C , CM000679.1:g.4849199T>C GRCh37
NC_000017.9:g.4789944T>C NCBI36
NG_012063.2:g.4814T>C
NG_032945.1:g.8183A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.419A>G MANE Select ENSP00000225655.5:p.Tyr140Cys
ENST00000225655.5:c.419A>G ENSP00000225655.5:p.Tyr140Cys
ENST00000574872.1:c.311A>G ENSP00000465019.1:p.Tyr104Cys
NM_005022.3:c.419A>G NP_005013.1:p.Tyr140Cys
XM_017024761.1:c.*503A>G XP_016880250.1:n.*503A>G
NM_001375991.1:c.*503A>G NP_001362920.1:n.*503A>G
NM_005022.4:c.419A>G MANE Select NP_005013.1:p.Tyr140Cys
Search 100 bp 5'
Search 100 bp 3'