Canonical Allele Identifier: CA115714
Gene: FERMT1 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.6107570G>A
GRCh37 chr20:g.6088217G>A
gnomAD v2:
20:6088217 G / A
gnomAD v3:
20:6107570 G / A
gnomAD v4:
chr20-6107570-G-A
Joint Max Group AF 0.0000255 (AFR)
Genomes Max Group AF 0.00003761 (NFE)
Exomes Max Group AF 0.00001583 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6107570G>A , CM000682.2:g.6107570G>A GRCh38
NC_000020.10:g.6088217G>A , CM000682.1:g.6088217G>A GRCh37
NC_000020.9:g.6036217G>A NCBI36
NG_016213.1:g.20975C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000699095.1:c.811C>T ENSP00000514127.1:p.Arg271Ter
ENST00000699096.1:n.1273C>T
ENST00000699098.1:c.811C>T ENSP00000514312.1:p.Arg271Ter
ENST00000217289.9:c.811C>T MANE Select ENSP00000217289.4:p.Arg271Ter
ENST00000217289.8:c.811C>T ENSP00000217289.4:p.Arg271Ter
ENST00000536936.1:c.40C>T ENSP00000441063.1:p.Arg14Ter
NM_017671.4:c.811C>T NP_060141.3:p.Arg271Ter
XM_024451935.1:c.811C>T XP_024307703.1:p.Arg271Ter
NM_017671.5:c.811C>T MANE Select NP_060141.3:p.Arg271Ter
Search 100 bp 5'
Search 100 bp 3'