Canonical Allele Identifier: CA397337994

Gene: PFN1

Linked Data

• gnomAD v4: 17-4945905-A-G
• MyVariant Identifiers: chr17:g.4849200A>G (hg19) ; chr17:g.4945905A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945905A>G , CM000679.2:g.4945905A>G	GRCh38
NC_000017.10:g.4849200A>G , CM000679.1:g.4849200A>G	GRCh37
NC_000017.9:g.4789945A>G	NCBI36
NG_012063.2:g.4815A>G
NG_032945.1:g.8182T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.418T>C MANE Select	ENSP00000225655.5:p.Tyr140His
ENST00000225655.5:c.418T>C	ENSP00000225655.5:p.Tyr140His
ENST00000574872.1:c.310T>C	ENSP00000465019.1:p.Tyr104His
NM_005022.3:c.418T>C	NP_005013.1:p.Tyr140His
XM_017024761.1:c.*502T>C	XP_016880250.1:n.*502T>C
NM_001375991.1:c.*502T>C	NP_001362920.1:n.*502T>C
NM_005022.4:c.418T>C MANE Select	NP_005013.1:p.Tyr140His