Canonical Allele Identifier: CA2635583012
Gene: PFN1 HGNC NCBI

Linked Data

gnomAD v4: 17-4945876-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945876G>T , CM000679.2:g.4945876G>T GRCh38
NC_000017.10:g.4849171G>T , CM000679.1:g.4849171G>T GRCh37
NC_000017.9:g.4789916G>T NCBI36
NG_012063.2:g.4786G>T
NG_032945.1:g.8211C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.*24C>A MANE Select ENSP00000225655.5:n.*24C>A
ENST00000225655.5:c.*24C>A ENSP00000225655.5:n.*24C>A
ENST00000574872.1:c.*24C>A ENSP00000465019.1:n.*24C>A
NM_005022.3:c.*24C>A NP_005013.1:n.*24C>A
XM_017024761.1:c.*531C>A XP_016880250.1:n.*531C>A
NM_001375991.1:c.*531C>A NP_001362920.1:n.*531C>A
NM_005022.4:c.*24C>A MANE Select NP_005013.1:n.*24C>A
Search 100 bp 5'
Search 100 bp 3'