Canonical Allele Identifier: CA5860548
Gene: DCHS1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.6632097G>A
GRCh37 chr11:g.6653328G>A
Revel Score:
ENST00000299441 (MANE Select) 0.299
gnomAD v2:
11:6653328 G / A
gnomAD v3:
11:6632097 G / A
gnomAD v4:
chr11-6632097-G-A
Joint Max Group AF 0.00005862 (EAS)
Exomes Max Group AF 0.00006607 (EAS)
ClinVar RCV:
RCV003062333
ClinVar Variation:
2136998
dbSNP:
757309797
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6632097G>A , CM000673.2:g.6632097G>A GRCh38
NC_000011.9:g.6653328G>A , CM000673.1:g.6653328G>A GRCh37
NC_000011.8:g.6609904G>A NCBI36
NG_033858.1:g.28753C>T
NG_033858.2:g.28753C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299441.5:c.3415C>T MANE Select ENSP00000299441.3:p.Arg1139Cys
ENST00000299441.4:c.3415C>T ENSP00000299441.3:p.Arg1139Cys
NM_003737.3:c.3415C>T NP_003728.1:p.Arg1139Cys
NM_003737.4:c.3415C>T MANE Select NP_003728.1:p.Arg1139Cys
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