Canonical Allele Identifier: CA2244642422

Gene: PFN1

Linked Data

• dbSNP Id: rs1597685884
• gnomAD v4: 17-4945880-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945880A>G , CM000679.2:g.4945880A>G	GRCh38
NC_000017.10:g.4849175A>G , CM000679.1:g.4849175A>G	GRCh37
NC_000017.9:g.4789920A>G	NCBI36
NG_012063.2:g.4790A>G
NG_032945.1:g.8207T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.*20T>C MANE Select	ENSP00000225655.5:n.*20T>C
ENST00000225655.5:c.*20T>C	ENSP00000225655.5:n.*20T>C
ENST00000574872.1:c.*20T>C	ENSP00000465019.1:n.*20T>C
NM_005022.3:c.*20T>C	NP_005013.1:n.*20T>C
XM_017024761.1:c.*527T>C	XP_016880250.1:n.*527T>C
NM_001375991.1:c.*527T>C	NP_001362920.1:n.*527T>C
NM_005022.4:c.*20T>C MANE Select	NP_005013.1:n.*20T>C