Canonical Allele Identifier: CA2635583361

Gene: PFN1

Linked Data

• gnomAD v4: 17-4946047-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4946047C>A , CM000679.2:g.4946047C>A	GRCh38
NC_000017.10:g.4849342C>A , CM000679.1:g.4849342C>A	GRCh37
NC_000017.9:g.4790087C>A	NCBI36
NG_012063.2:g.4957C>A
NG_032945.1:g.8040G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.326-50G>T MANE Select	ENSP00000225655.5:n.326-50G>T
ENST00000225655.5:c.326-50G>T	ENSP00000225655.5:n.326-50G>T
ENST00000574872.1:c.218-50G>T	ENSP00000465019.1:n.218-50G>T
NM_005022.3:c.326-50G>T	NP_005013.1:n.326-50G>T
XM_017024761.1:c.*360G>T	XP_016880250.1:n.*360G>T
NM_001375991.1:c.*360G>T	NP_001362920.1:n.*360G>T
NM_005022.4:c.326-50G>T MANE Select	NP_005013.1:n.326-50G>T