Canonical Allele Identifier: CA9758144
Gene: FERMT1 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.6085276G>A
GRCh37 chr20:g.6065923G>A
gnomAD v2:
20:6065923 G / A
gnomAD v3:
20:6085276 G / A
gnomAD v4:
chr20-6085276-G-A
Joint Max Group AF 0.00461932 (AFR)
Genomes Max Group AF 0.0042661 (AFR)
Exomes Max Group AF 0.00468094 (AFR)
ClinVar RCV:
RCV001141340
RCV001511231
ClinVar Variation:
897836
dbSNP:
142328166
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6085276G>A , CM000682.2:g.6085276G>A GRCh38
NC_000020.10:g.6065923G>A , CM000682.1:g.6065923G>A GRCh37
NC_000020.9:g.6013923G>A NCBI36
NG_016213.1:g.43269C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000699095.1:c.1383C>T ENSP00000514127.1:p.Tyr461=
ENST00000217289.9:c.1383C>T MANE Select ENSP00000217289.4:p.Tyr461=
ENST00000217289.8:c.1383C>T ENSP00000217289.4:p.Tyr461=
ENST00000478194.1:n.343C>T
ENST00000536936.1:c.612C>T ENSP00000441063.1:p.Tyr204=
NM_017671.4:c.1383C>T NP_060141.3:p.Tyr461=
XM_024451935.1:c.1383C>T XP_024307703.1:p.Tyr461=
NM_017671.5:c.1383C>T MANE Select NP_060141.3:p.Tyr461=
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