Canonical Allele Identifier: CA287230685

Gene: PFN1

Linked Data

• dbSNP Id: rs985968607
• gnomAD v4: 17-4945837-G-A
• MyVariant Identifiers: chr17:g.4849132G>A (hg19) ; chr17:g.4945837G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945837G>A , CM000679.2:g.4945837G>A	GRCh38
NC_000017.10:g.4849132G>A , CM000679.1:g.4849132G>A	GRCh37
NC_000017.9:g.4789877G>A	NCBI36
NG_012063.2:g.4747G>A
NG_032945.1:g.8250C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.*63C>T MANE Select	ENSP00000225655.5:n.*63C>T
ENST00000225655.5:c.*63C>T	ENSP00000225655.5:n.*63C>T
ENST00000574872.1:c.*63C>T	ENSP00000465019.1:n.*63C>T
NM_005022.3:c.*63C>T	NP_005013.1:n.*63C>T
XM_017024761.1:c.*570C>T	XP_016880250.1:n.*570C>T
NM_001375991.1:c.*570C>T	NP_001362920.1:n.*570C>T
NM_005022.4:c.*63C>T MANE Select	NP_005013.1:n.*63C>T