Canonical Allele Identifier: CA395641526

Gene: HSD3B7

Linked Data

• ClinVar Variation Id: 2697513
• ClinVar RCV Id: RCV003549315
• dbSNP Id: rs376562345
• gnomAD v2: 16-30998247-C-G
• gnomAD v4: 16-30986926-C-G
• MyVariant Identifiers: chr16:g.30998247C>G (hg19) ; chr16:g.30986926C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986926C>G , CM000678.2:g.30986926C>G	GRCh38
NC_000016.9:g.30998247C>G , CM000678.1:g.30998247C>G	GRCh37
NC_000016.8:g.30905748C>G	NCBI36
NG_012346.1:g.6729C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.618C>G MANE Select	ENSP00000297679.5:p.Tyr206Ter
ENST00000262520.10:c.531+222C>G	ENSP00000262520.6:n.531+222C>G
ENST00000297679.9:c.618C>G	ENSP00000297679.5:p.Tyr206Ter
NM_001142777.1:c.531+222C>G	NP_001136249.1:n.531+222C>G
NM_001142778.1:c.531+222C>G	NP_001136250.1:n.531+222C>G
NM_025193.3:c.618C>G	NP_079469.2:p.Tyr206Ter
XM_005255601.3:c.618C>G	XP_005255658.2:p.Tyr206Ter
XM_011545960.1:c.618C>G	XP_011544262.1:p.Tyr206Ter
XM_011545961.1:c.618C>G	XP_011544263.1:p.Tyr206Ter
XM_011545962.1:c.531+222C>G	XP_011544264.1:n.531+222C>G
XM_011545960.2:c.618C>G	XP_011544262.1:p.Tyr206Ter
XM_011545962.2:c.531+222C>G	XP_011544264.1:n.531+222C>G
XM_017023732.1:c.531+222C>G	XP_016879221.1:n.531+222C>G
NM_025193.4:c.618C>G MANE Select	NP_079469.2:p.Tyr206Ter
NM_001142777.2:c.531+222C>G	NP_001136249.1:n.531+222C>G
NM_001142778.2:c.531+222C>G	NP_001136250.1:n.531+222C>G