Canonical Allele Identifier: CA2635583063

Gene: PFN1

Linked Data

• gnomAD v4: 17-4945893-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945893G>A , CM000679.2:g.4945893G>A	GRCh38
NC_000017.10:g.4849188G>A , CM000679.1:g.4849188G>A	GRCh37
NC_000017.9:g.4789933G>A	NCBI36
NG_012063.2:g.4803G>A
NG_032945.1:g.8194C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.*7C>T MANE Select	ENSP00000225655.5:n.*7C>T
ENST00000225655.5:c.*7C>T	ENSP00000225655.5:n.*7C>T
ENST00000574872.1:c.*7C>T	ENSP00000465019.1:n.*7C>T
NM_005022.3:c.*7C>T	NP_005013.1:n.*7C>T
XM_017024761.1:c.*514C>T	XP_016880250.1:n.*514C>T
NM_001375991.1:c.*514C>T	NP_001362920.1:n.*514C>T
NM_005022.4:c.*7C>T MANE Select	NP_005013.1:n.*7C>T