Canonical Allele Identifier: CA210366
Gene: DCHS1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.6624138C>T
GRCh37 chr11:g.6645369C>T
Revel Score:
ENST00000299441 (MANE Select) 0.177
gnomAD v2:
11:6645369 C / T
gnomAD v3:
11:6624138 C / T
gnomAD v4:
chr11-6624138-C-T
Joint Max Group AF 0.00291079 (EAS)
Genomes Max Group AF 0.00255402 (EAS)
Exomes Max Group AF 0.00282322 (EAS)
ClinVar RCV:
RCV000201949
RCV000896845
ClinVar Variation:
217870
dbSNP:
201457110
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6624138C>T , CM000673.2:g.6624138C>T GRCh38
NC_000011.9:g.6645369C>T , CM000673.1:g.6645369C>T GRCh37
NC_000011.8:g.6601945C>T NCBI36
NG_008653.1:g.324G>A
NG_033858.1:g.36712G>A
NG_033858.2:g.36712G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299441.5:c.7538G>A MANE Select ENSP00000299441.3:p.Arg2513His
ENST00000299441.4:c.7538G>A ENSP00000299441.3:p.Arg2513His
NM_003737.3:c.7538G>A NP_003728.1:p.Arg2513His
NM_003737.4:c.7538G>A MANE Select NP_003728.1:p.Arg2513His
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