Canonical Allele Identifier: CA357195
Gene: FERMT1 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.6089031A>G
GRCh37 chr20:g.6069678A>G
Revel Score:
ENST00000217289 (MANE Select) 0.809
ENST00000536936 0.809
ENST00000339538 0.809
gnomAD v4:
chr20-6089031-A-G
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000209936
ClinVar Variation:
224165
dbSNP:
869312718
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6089031A>G , CM000682.2:g.6089031A>G GRCh38
NC_000020.10:g.6069678A>G , CM000682.1:g.6069678A>G GRCh37
NC_000020.9:g.6017678A>G NCBI36
NG_016213.1:g.39514T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699095.1:c.1198T>C ENSP00000514127.1:p.Ser400Pro
ENST00000699096.1:n.1660T>C
ENST00000217289.9:c.1198T>C MANE Select ENSP00000217289.4:p.Ser400Pro
ENST00000217289.8:c.1198T>C ENSP00000217289.4:p.Ser400Pro
ENST00000478194.1:n.158T>C
ENST00000536936.1:c.427T>C ENSP00000441063.1:p.Ser143Pro
NM_017671.4:c.1198T>C NP_060141.3:p.Ser400Pro
XM_024451935.1:c.1198T>C XP_024307703.1:p.Ser400Pro
NM_017671.5:c.1198T>C MANE Select NP_060141.3:p.Ser400Pro
Search 100 bp 5'
Search 100 bp 3'