Canonical Allele Identifier: CA357162
Gene: FERMT1 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.6122775T>C
GRCh37 chr20:g.6103422T>C
gnomAD v2:
20:6103422 T / C
gnomAD v3:
20:6122775 T / C
gnomAD v4:
chr20-6122775-T-C
Joint Max Group AF 0.00000487 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
ClinVar RCV:
RCV000209860
ClinVar Variation:
224169
dbSNP:
869312722
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6122775T>C , CM000682.2:g.6122775T>C GRCh38
NC_000020.10:g.6103422T>C , CM000682.1:g.6103422T>C GRCh37
NC_000020.9:g.6051422T>C NCBI36
NG_016213.1:g.5770A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000699095.1:c.-3221A>G ENSP00000514127.1:n.-3221A>G
ENST00000699096.1:n.440A>G
ENST00000217289.9:c.-20A>G MANE Select ENSP00000217289.4:n.-20A>G
ENST00000217289.8:c.-20A>G ENSP00000217289.4:n.-20A>G
ENST00000536936.1:c.-560A>G ENSP00000441063.1:n.-560A>G
NM_017671.4:c.-20A>G NP_060141.3:n.-20A>G
XM_024451935.1:c.-23A>G XP_024307703.1:n.-23A>G
NM_017671.5:c.-20A>G MANE Select NP_060141.3:n.-20A>G
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