Canonical Allele Identifier: CA8018103

Gene: HSD3B7

Linked Data

• ClinVar Variation Id: 3107184
• ClinVar RCV Id: RCV004404538
• dbSNP Id: rs200384115
• ExAC: 16:30999136 C / T
• gnomAD v2: 16-30999136-C-T
• gnomAD v3: 16-30987815-C-T
• gnomAD v4: 16-30987815-C-T
• MyVariant Identifiers: chr16:g.30999136C>T (hg19) ; chr16:g.30987815C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30987815C>T , CM000678.2:g.30987815C>T	GRCh38
NC_000016.9:g.30999136C>T , CM000678.1:g.30999136C>T	GRCh37
NC_000016.8:g.30906637C>T	NCBI36
NG_012346.1:g.7618C>T
NG_041829.1:g.27694G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.742C>T MANE Select	ENSP00000297679.5:p.Arg248Trp
ENST00000262520.10:c.579C>T	ENSP00000262520.6:p.Ser193=
ENST00000297679.9:c.742C>T	ENSP00000297679.5:p.Arg248Trp
NM_001142777.1:c.579C>T	NP_001136249.1:p.Ser193=
NM_001142778.1:c.579C>T	NP_001136250.1:p.Ser193=
NM_025193.3:c.742C>T	NP_079469.2:p.Arg248Trp
XM_005255601.3:c.742C>T	XP_005255658.2:p.Arg248Trp
XM_011545960.1:c.742C>T	XP_011544262.1:p.Arg248Trp
XM_011545961.1:c.742C>T	XP_011544263.1:p.Arg248Trp
XM_011545962.1:c.579C>T	XP_011544264.1:p.Ser193=
XM_011545960.2:c.742C>T	XP_011544262.1:p.Arg248Trp
XM_011545962.2:c.579C>T	XP_011544264.1:p.Ser193=
XM_017023732.1:c.579C>T	XP_016879221.1:p.Ser193=
NM_025193.4:c.742C>T MANE Select	NP_079469.2:p.Arg248Trp
NM_001142777.2:c.579C>T	NP_001136249.1:p.Ser193=
NM_001142778.2:c.579C>T	NP_001136250.1:p.Ser193=