Canonical Allele Identifier: CA397337971
Gene: PFN1 HGNC NCBI

Linked Data

gnomAD v4: 17-4945902-A-G
MyVariant Identifiers: chr17:g.4849197A>G (hg19) chr17:g.4945902A>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.421T>C MANE Select ENSP00000225655.5:p.Ter141Arg
ENST00000225655.5:c.421T>C ENSP00000225655.5:p.Ter141Arg
ENST00000574872.1:c.313T>C ENSP00000465019.1:p.Ter105Arg
NM_005022.3:c.421T>C NP_005013.1:p.Ter141Arg
XM_017024761.1:c.*505T>C XP_016880250.1:n.*505T>C
NM_001375991.1:c.*505T>C NP_001362920.1:n.*505T>C
NM_005022.4:c.421T>C MANE Select NP_005013.1:p.Ter141Arg
Search 100 bp 5'
Search 100 bp 3'