Canonical Allele Identifier: CA2244642340
Gene: PFN1 HGNC NCBI

Linked Data

dbSNP Id: rs1216668199
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945852A>G , CM000679.2:g.4945852A>G GRCh38
NC_000017.10:g.4849147A>G , CM000679.1:g.4849147A>G GRCh37
NC_000017.9:g.4789892A>G NCBI36
NG_012063.2:g.4762A>G
NG_032945.1:g.8235T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.*48T>C MANE Select ENSP00000225655.5:n.*48T>C
ENST00000225655.5:c.*48T>C ENSP00000225655.5:n.*48T>C
ENST00000574872.1:c.*48T>C ENSP00000465019.1:n.*48T>C
NM_005022.3:c.*48T>C NP_005013.1:n.*48T>C
XM_017024761.1:c.*555T>C XP_016880250.1:n.*555T>C
NM_001375991.1:c.*555T>C NP_001362920.1:n.*555T>C
NM_005022.4:c.*48T>C MANE Select NP_005013.1:n.*48T>C
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