Canonical Allele Identifier: CA8018117

Gene: HSD3B7

Linked Data

• ClinVar Variation Id: 3051430
• ClinVar RCV Id: RCV003959419
• dbSNP Id: rs756816052
• ExAC: 16:30999190 A / C
• gnomAD v2: 16-30999190-A-C
• gnomAD v3: 16-30987869-A-C
• gnomAD v4: 16-30987869-A-C
• MyVariant Identifiers: chr16:g.30999190A>C (hg19) ; chr16:g.30987869A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30987869A>C , CM000678.2:g.30987869A>C	GRCh38
NC_000016.9:g.30999190A>C , CM000678.1:g.30999190A>C	GRCh37
NC_000016.8:g.30906691A>C	NCBI36
NG_012346.1:g.7672A>C
NG_041829.1:g.27640T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.796A>C MANE Select	ENSP00000297679.5:p.Arg266=
ENST00000262520.10:c.*42A>C	ENSP00000262520.6:n.*42A>C
ENST00000297679.9:c.796A>C	ENSP00000297679.5:p.Arg266=
NM_001142777.1:c.*42A>C	NP_001136249.1:n.*42A>C
NM_001142778.1:c.*42A>C	NP_001136250.1:n.*42A>C
NM_025193.3:c.796A>C	NP_079469.2:p.Arg266=
XM_005255601.3:c.796A>C	XP_005255658.2:p.Arg266=
XM_011545960.1:c.796A>C	XP_011544262.1:p.Arg266=
XM_011545961.1:c.796A>C	XP_011544263.1:p.Arg266=
XM_011545962.1:c.*42A>C	XP_011544264.1:n.*42A>C
XM_011545960.2:c.796A>C	XP_011544262.1:p.Arg266=
XM_011545962.2:c.*42A>C	XP_011544264.1:n.*42A>C
XM_017023732.1:c.*42A>C	XP_016879221.1:n.*42A>C
NM_025193.4:c.796A>C MANE Select	NP_079469.2:p.Arg266=
NM_001142777.2:c.*42A>C	NP_001136249.1:n.*42A>C
NM_001142778.2:c.*42A>C	NP_001136250.1:n.*42A>C