Canonical Allele Identifier: CA8017986
Gene: HSD3B7 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.30986523C>A
GRCh37 chr16:g.30997844C>A
gnomAD v2:
16:30997844 C / A
gnomAD v3:
16:30986523 C / A
gnomAD v4:
chr16-30986523-C-A
Joint Max Group AF 0.0003314 (AMR)
Genomes Max Group AF 0.00081365 (AMR)
Exomes Max Group AF 0.00010427 (AMR)
ClinVar RCV:
RCV003896730
ClinVar Variation:
3029630
dbSNP:
199732996
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30986523C>A , CM000678.2:g.30986523C>A GRCh38
NC_000016.9:g.30997844C>A , CM000678.1:g.30997844C>A GRCh37
NC_000016.8:g.30905345C>A NCBI36
NG_012346.1:g.6326C>A
NG_052948.1:g.34230C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297679.10:c.423C>A MANE Select ENSP00000297679.5:p.Pro141=
ENST00000262520.10:c.423C>A ENSP00000262520.6:p.Pro141=
ENST00000297679.9:c.423C>A ENSP00000297679.5:p.Pro141=
ENST00000562932.5:c.546C>A ENSP00000459852.1:p.Pro182=
ENST00000574447.1:c.423C>A ENSP00000459689.1:p.Pro141=
NM_001142777.1:c.423C>A NP_001136249.1:p.Pro141=
NM_001142778.1:c.423C>A NP_001136250.1:p.Pro141=
NM_025193.3:c.423C>A NP_079469.2:p.Pro141=
XM_005255601.3:c.423C>A XP_005255658.2:p.Pro141=
XM_011545960.1:c.423C>A XP_011544262.1:p.Pro141=
XM_011545961.1:c.423C>A XP_011544263.1:p.Pro141=
XM_011545962.1:c.423C>A XP_011544264.1:p.Pro141=
XM_011545960.2:c.423C>A XP_011544262.1:p.Pro141=
XM_011545962.2:c.423C>A XP_011544264.1:p.Pro141=
XM_017023732.1:c.423C>A XP_016879221.1:p.Pro141=
NM_025193.4:c.423C>A MANE Select NP_079469.2:p.Pro141=
NM_001142777.2:c.423C>A NP_001136249.1:p.Pro141=
NM_001142778.2:c.423C>A NP_001136250.1:p.Pro141=
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