Canonical Allele Identifier: CA408182150

Gene: FERMT1

Linked Data

• dbSNP Id: rs1454041321
• gnomAD v2: 20-6077555-G-T
• gnomAD v4: 20-6096908-G-T
• MyVariant Identifiers: chr20:g.6077555G>T (hg19) ; chr20:g.6096908G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.6096908G>T , CM000682.2:g.6096908G>T	GRCh38
NC_000020.10:g.6077555G>T , CM000682.1:g.6077555G>T	GRCh37
NC_000020.9:g.6025555G>T	NCBI36
NG_016213.1:g.31637C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699095.1:c.1083C>A	ENSP00000514127.1:p.Ser361Arg
ENST00000699096.1:n.1545C>A
ENST00000699097.1:n.253C>A
ENST00000217289.9:c.1083C>A MANE Select	ENSP00000217289.4:p.Ser361Arg
ENST00000217289.8:c.1083C>A	ENSP00000217289.4:p.Ser361Arg
ENST00000536936.1:c.312C>A	ENSP00000441063.1:p.Ser104Arg
NM_017671.4:c.1083C>A	NP_060141.3:p.Ser361Arg
XM_024451935.1:c.1083C>A	XP_024307703.1:p.Ser361Arg
NM_017671.5:c.1083C>A MANE Select	NP_060141.3:p.Ser361Arg