Canonical Allele Identifier: CA2244642243
Gene: PFN1 HGNC NCBI

Linked Data

dbSNP Id: rs1971372785
gnomAD v4: 17-4945822-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945822T>C , CM000679.2:g.4945822T>C GRCh38
NC_000017.10:g.4849117T>C , CM000679.1:g.4849117T>C GRCh37
NC_000017.9:g.4789862T>C NCBI36
NG_012063.2:g.4732T>C
NG_032945.1:g.8265A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.*78A>G MANE Select ENSP00000225655.5:n.*78A>G
ENST00000225655.5:c.*78A>G ENSP00000225655.5:n.*78A>G
ENST00000574872.1:c.*78A>G ENSP00000465019.1:n.*78A>G
NM_005022.3:c.*78A>G NP_005013.1:n.*78A>G
XM_017024761.1:c.*585A>G XP_016880250.1:n.*585A>G
NM_001375991.1:c.*585A>G NP_001362920.1:n.*585A>G
NM_005022.4:c.*78A>G MANE Select NP_005013.1:n.*78A>G
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