Canonical Allele Identifier: CA8017938

Gene: HSD3B7

Linked Data

• ClinVar Variation Id: 499368
• ClinVar RCV Id: RCV000592050
• dbSNP Id: rs371576756
• ExAC: 16:30997460 C / T
• gnomAD v2: 16-30997460-C-T
• gnomAD v3: 16-30986139-C-T
• gnomAD v4: 16-30986139-C-T
• MyVariant Identifiers: chr16:g.30997460C>T (hg19) ; chr16:g.30986139C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986139C>T , CM000678.2:g.30986139C>T	GRCh38
NC_000016.9:g.30997460C>T , CM000678.1:g.30997460C>T	GRCh37
NC_000016.8:g.30904961C>T	NCBI36
NG_012346.1:g.5942C>T
NG_052948.1:g.33846C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.257C>T MANE Select	ENSP00000297679.5:p.Thr86Met
ENST00000262520.10:c.257C>T	ENSP00000262520.6:p.Thr86Met
ENST00000297679.9:c.257C>T	ENSP00000297679.5:p.Thr86Met
ENST00000562932.5:c.380C>T	ENSP00000459852.1:p.Thr127Met
ENST00000574447.1:c.257C>T	ENSP00000459689.1:p.Thr86Met
NM_001142777.1:c.257C>T	NP_001136249.1:p.Thr86Met
NM_001142778.1:c.257C>T	NP_001136250.1:p.Thr86Met
NM_025193.3:c.257C>T	NP_079469.2:p.Thr86Met
XM_005255601.3:c.257C>T	XP_005255658.2:p.Thr86Met
XM_011545960.1:c.257C>T	XP_011544262.1:p.Thr86Met
XM_011545961.1:c.257C>T	XP_011544263.1:p.Thr86Met
XM_011545962.1:c.257C>T	XP_011544264.1:p.Thr86Met
XM_011545960.2:c.257C>T	XP_011544262.1:p.Thr86Met
XM_011545962.2:c.257C>T	XP_011544264.1:p.Thr86Met
XM_017023732.1:c.257C>T	XP_016879221.1:p.Thr86Met
NM_025193.4:c.257C>T MANE Select	NP_079469.2:p.Thr86Met
NM_001142777.2:c.257C>T	NP_001136249.1:p.Thr86Met
NM_001142778.2:c.257C>T	NP_001136250.1:p.Thr86Met