Canonical Allele Identifier: CA3635656
Gene: SMIM13 HGNC NCBI
ERVFRD-1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.11104610C>T
GRCh37 chr6:g.11104843C>T
Revel Score:
ENST00000472091 (MANE Select) 0.070
ENST00000542862 0.070
gnomAD v2:
6:11104843 C / T
gnomAD v3:
6:11104610 C / T
gnomAD v4:
chr6-11104610-C-T
Joint Max Group AF 0.0000122 (NFE)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00001174 (NFE)
ClinVar RCV:
RCV004154507
ClinVar Variation:
2303169
dbSNP:
756242354
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.11104610C>T , CM000668.2:g.11104610C>T GRCh38
NC_000006.11:g.11104843C>T , CM000668.1:g.11104843C>T GRCh37
NC_000006.10:g.11212829C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000416247.4:c.76+10221C>T (SMIM13) MANE Select ENSP00000451866.1:n.76+10221C>T
ENST00000472091.2:c.701G>A (ERVFRD-1) MANE Select ENSP00000420174.1:p.Arg234Gln
ENST00000376935.4:c.76+10221C>T (SMIM13) ENSP00000452219.1:n.76+10221C>T
ENST00000416247.3:c.76+10221C>T (SMIM13) ENSP00000451866.1:n.76+10221C>T
ENST00000472091.1:c.701G>A (ERVFRD-1) ENSP00000420174.1:p.Arg234Gln
ENST00000542862.1:c.701G>A (ERVFRD-1) ENSP00000444461.1:p.Arg234Gln
NM_001135575.1:c.76+10221C>T (SMIM13) NP_001129047.1:n.76+10221C>T
NM_207582.2:c.701G>A (ERVFRD-1) NP_997465.1:p.Arg234Gln
NM_001135575.2:c.76+10221C>T (SMIM13) MANE Select NP_001129047.1:n.76+10221C>T
NM_207582.3:c.701G>A (ERVFRD-1) MANE Select NP_997465.1:p.Arg234Gln
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