Canonical Allele Identifier: CA2244642321

Gene: PFN1

Linked Data

• dbSNP Id: rs1170629373
• gnomAD v4: 17-4945848-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945848G>A , CM000679.2:g.4945848G>A	GRCh38
NC_000017.10:g.4849143G>A , CM000679.1:g.4849143G>A	GRCh37
NC_000017.9:g.4789888G>A	NCBI36
NG_012063.2:g.4758G>A
NG_032945.1:g.8239C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.*52C>T MANE Select	ENSP00000225655.5:n.*52C>T
ENST00000225655.5:c.*52C>T	ENSP00000225655.5:n.*52C>T
ENST00000574872.1:c.*52C>T	ENSP00000465019.1:n.*52C>T
NM_005022.3:c.*52C>T	NP_005013.1:n.*52C>T
XM_017024761.1:c.*559C>T	XP_016880250.1:n.*559C>T
NM_001375991.1:c.*559C>T	NP_001362920.1:n.*559C>T
NM_005022.4:c.*52C>T MANE Select	NP_005013.1:n.*52C>T