Canonical Allele Identifier: CA8018124

Gene: HSD3B7

Linked Data

• ClinVar Variation Id: 2191305
• ClinVar RCV Id: RCV002616841
• dbSNP Id: rs150681074
• ExAC: 16:30999238 C / T
• gnomAD v2: 16-30999238-C-T
• gnomAD v3: 16-30987917-C-T
• gnomAD v4: 16-30987917-C-T
• MyVariant Identifiers: chr16:g.30999238C>T (hg19) ; chr16:g.30987917C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30987917C>T , CM000678.2:g.30987917C>T	GRCh38
NC_000016.9:g.30999238C>T , CM000678.1:g.30999238C>T	GRCh37
NC_000016.8:g.30906739C>T	NCBI36
NG_012346.1:g.7720C>T
NG_041829.1:g.27592G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.844C>T MANE Select	ENSP00000297679.5:p.Arg282Trp
ENST00000262520.10:c.*90C>T	ENSP00000262520.6:n.*90C>T
ENST00000297679.9:c.844C>T	ENSP00000297679.5:p.Arg282Trp
NM_001142777.1:c.*90C>T	NP_001136249.1:n.*90C>T
NM_001142778.1:c.*90C>T	NP_001136250.1:n.*90C>T
NM_025193.3:c.844C>T	NP_079469.2:p.Arg282Trp
XM_005255601.3:c.844C>T	XP_005255658.2:p.Arg282Trp
XM_011545960.1:c.844C>T	XP_011544262.1:p.Arg282Trp
XM_011545961.1:c.844C>T	XP_011544263.1:p.Arg282Trp
XM_011545962.1:c.*90C>T	XP_011544264.1:n.*90C>T
XM_011545960.2:c.844C>T	XP_011544262.1:p.Arg282Trp
XM_011545962.2:c.*90C>T	XP_011544264.1:n.*90C>T
XM_017023732.1:c.*90C>T	XP_016879221.1:n.*90C>T
NM_025193.4:c.844C>T MANE Select	NP_079469.2:p.Arg282Trp
NM_001142777.2:c.*90C>T	NP_001136249.1:n.*90C>T
NM_001142778.2:c.*90C>T	NP_001136250.1:n.*90C>T