Canonical Allele Identifier: CA217330254
Gene: DCHS1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.6625235T>C
GRCh37 chr11:g.6646466T>C
Revel Score:
ENST00000299441 (MANE Select) 0.740
gnomAD v2:
11:6646466 T / C
gnomAD v3:
11:6625235 T / C
gnomAD v4:
chr11-6625235-T-C
Joint Max Group AF 0.00000805 (NFE)
Genomes Max Group AF 0.00000798 (AFR)
Exomes Max Group AF 0.00000732 (NFE)
ClinVar RCV:
RCV002675917
RCV003985565
ClinVar Variation:
1942552
dbSNP:
483352919
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6625235T>C , CM000673.2:g.6625235T>C GRCh38
NC_000011.9:g.6646466T>C , CM000673.1:g.6646466T>C GRCh37
NC_000011.8:g.6603042T>C NCBI36
NG_033858.1:g.35615A>G
NG_033858.2:g.35615A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299441.5:c.7109A>G MANE Select ENSP00000299441.3:p.Asn2370Ser
ENST00000299441.4:c.7109A>G ENSP00000299441.3:p.Asn2370Ser
NM_003737.3:c.7109A>G NP_003728.1:p.Asn2370Ser
NM_003737.4:c.7109A>G MANE Select NP_003728.1:p.Asn2370Ser
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