Canonical Allele Identifier: CA980974476

Gene: PFN1

Linked Data

• dbSNP Id: rs1971373501
• gnomAD v3: 17-4945844-G-A
• gnomAD v4: 17-4945844-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945844G>A , CM000679.2:g.4945844G>A	GRCh38
NC_000017.10:g.4849139G>A , CM000679.1:g.4849139G>A	GRCh37
NC_000017.9:g.4789884G>A	NCBI36
NG_012063.2:g.4754G>A
NG_032945.1:g.8243C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.*56C>T MANE Select	ENSP00000225655.5:n.*56C>T
ENST00000225655.5:c.*56C>T	ENSP00000225655.5:n.*56C>T
ENST00000574872.1:c.*56C>T	ENSP00000465019.1:n.*56C>T
NM_005022.3:c.*56C>T	NP_005013.1:n.*56C>T
XM_017024761.1:c.*563C>T	XP_016880250.1:n.*563C>T
NM_001375991.1:c.*563C>T	NP_001362920.1:n.*563C>T
NM_005022.4:c.*56C>T MANE Select	NP_005013.1:n.*56C>T