Canonical Allele Identifier: CA408176195

Gene: FERMT1

Linked Data

• gnomAD v4: 20-6079460-C-A
• MyVariant Identifiers: chr20:g.6060107C>A (hg19) ; chr20:g.6079460C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.6079460C>A , CM000682.2:g.6079460C>A	GRCh38
NC_000020.10:g.6060107C>A , CM000682.1:g.6060107C>A	GRCh37
NC_000020.9:g.6008107C>A	NCBI36
NG_016213.1:g.49085G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699095.1:c.1836G>T	ENSP00000514127.1:p.Trp612Cys
ENST00000217289.9:c.1836G>T MANE Select	ENSP00000217289.4:p.Trp612Cys
ENST00000217289.8:c.1836G>T	ENSP00000217289.4:p.Trp612Cys
ENST00000478194.1:n.796G>T
ENST00000536936.1:c.1065G>T	ENSP00000441063.1:p.Trp355Cys
NM_017671.4:c.1836G>T	NP_060141.3:p.Trp612Cys
XM_024451935.1:c.1836G>T	XP_024307703.1:p.Trp612Cys
NM_017671.5:c.1836G>T MANE Select	NP_060141.3:p.Trp612Cys