Canonical Allele Identifier: CA408186626
Gene: FERMT1 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.6107570G>C
GRCh37 chr20:g.6088217G>C
Revel Score:
ENST00000217289 (MANE Select) 0.894
ENST00000536936 0.894
ENST00000339538 0.894
ClinVar RCV:
RCV001143193
ClinVar Variation:
898990
dbSNP:
121918293
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000699095.1:c.811C>G ENSP00000514127.1:p.Arg271Gly
ENST00000699096.1:n.1273C>G
ENST00000699098.1:c.811C>G ENSP00000514312.1:p.Arg271Gly
ENST00000217289.9:c.811C>G MANE Select ENSP00000217289.4:p.Arg271Gly
ENST00000217289.8:c.811C>G ENSP00000217289.4:p.Arg271Gly
ENST00000536936.1:c.40C>G ENSP00000441063.1:p.Arg14Gly
NM_017671.4:c.811C>G NP_060141.3:p.Arg271Gly
XM_024451935.1:c.811C>G XP_024307703.1:p.Arg271Gly
NM_017671.5:c.811C>G MANE Select NP_060141.3:p.Arg271Gly
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