Canonical Allele Identifier: CA2651854082

Gene: FERMT1

Linked Data

• gnomAD v4: 20-6107524-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.6107524T>C , CM000682.2:g.6107524T>C	GRCh38
NC_000020.10:g.6088171T>C , CM000682.1:g.6088171T>C	GRCh37
NC_000020.9:g.6036171T>C	NCBI36
NG_016213.1:g.21021A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000699095.1:c.849+8A>G	ENSP00000514127.1:n.849+8A>G
ENST00000699096.1:n.1311+8A>G
ENST00000699097.1:n.19+8A>G
ENST00000699098.1:c.857A>G	ENSP00000514312.1:p.Asn286Ser
ENST00000217289.9:c.849+8A>G MANE Select	ENSP00000217289.4:n.849+8A>G
ENST00000217289.8:c.849+8A>G	ENSP00000217289.4:n.849+8A>G
ENST00000536936.1:c.78+8A>G	ENSP00000441063.1:n.78+8A>G
NM_017671.4:c.849+8A>G	NP_060141.3:n.849+8A>G
XM_024451935.1:c.849+8A>G	XP_024307703.1:n.849+8A>G
NM_017671.5:c.849+8A>G MANE Select	NP_060141.3:n.849+8A>G