Canonical Allele Identifier: CA397337980

Gene: PFN1

Linked Data

• dbSNP Id: rs771709608
• gnomAD v2: 17-4849198-G-C
• gnomAD v4: 17-4945903-G-C
• MyVariant Identifiers: chr17:g.4849198G>C (hg19) ; chr17:g.4945903G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945903G>C , CM000679.2:g.4945903G>C	GRCh38
NC_000017.10:g.4849198G>C , CM000679.1:g.4849198G>C	GRCh37
NC_000017.9:g.4789943G>C	NCBI36
NG_012063.2:g.4813G>C
NG_032945.1:g.8184C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.420C>G MANE Select	ENSP00000225655.5:p.Tyr140Ter
ENST00000225655.5:c.420C>G	ENSP00000225655.5:p.Tyr140Ter
ENST00000574872.1:c.312C>G	ENSP00000465019.1:p.Tyr104Ter
NM_005022.3:c.420C>G	NP_005013.1:p.Tyr140Ter
XM_017024761.1:c.*504C>G	XP_016880250.1:n.*504C>G
NM_001375991.1:c.*504C>G	NP_001362920.1:n.*504C>G
NM_005022.4:c.420C>G MANE Select	NP_005013.1:p.Tyr140Ter