Canonical Allele Identifier: CA397338021

Gene: PFN1

Linked Data

• gnomAD v4: 17-4945908-G-T
• MyVariant Identifiers: chr17:g.4849203G>T (hg19) ; chr17:g.4945908G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945908G>T , CM000679.2:g.4945908G>T	GRCh38
NC_000017.10:g.4849203G>T , CM000679.1:g.4849203G>T	GRCh37
NC_000017.9:g.4789948G>T	NCBI36
NG_012063.2:g.4818G>T
NG_032945.1:g.8179C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.415C>A MANE Select	ENSP00000225655.5:p.Gln139Lys
ENST00000225655.5:c.415C>A	ENSP00000225655.5:p.Gln139Lys
ENST00000574872.1:c.307C>A	ENSP00000465019.1:p.Gln103Lys
NM_005022.3:c.415C>A	NP_005013.1:p.Gln139Lys
XM_017024761.1:c.*499C>A	XP_016880250.1:n.*499C>A
NM_001375991.1:c.*499C>A	NP_001362920.1:n.*499C>A
NM_005022.4:c.415C>A MANE Select	NP_005013.1:p.Gln139Lys