Canonical Allele Identifier: CA395639980

Gene: HSD3B7

Linked Data

• dbSNP Id: rs1240435879
• gnomAD v2: 16-30997790-C-G
• gnomAD v4: 16-30986469-C-G
• MyVariant Identifiers: chr16:g.30997790C>G (hg19) ; chr16:g.30986469C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986469C>G , CM000678.2:g.30986469C>G	GRCh38
NC_000016.9:g.30997790C>G , CM000678.1:g.30997790C>G	GRCh37
NC_000016.8:g.30905291C>G	NCBI36
NG_012346.1:g.6272C>G
NG_052948.1:g.34176C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.369C>G MANE Select	ENSP00000297679.5:p.Phe123Leu
ENST00000262520.10:c.369C>G	ENSP00000262520.6:p.Phe123Leu
ENST00000297679.9:c.369C>G	ENSP00000297679.5:p.Phe123Leu
ENST00000562932.5:c.492C>G	ENSP00000459852.1:p.Phe164Leu
ENST00000574447.1:c.369C>G	ENSP00000459689.1:p.Phe123Leu
NM_001142777.1:c.369C>G	NP_001136249.1:p.Phe123Leu
NM_001142778.1:c.369C>G	NP_001136250.1:p.Phe123Leu
NM_025193.3:c.369C>G	NP_079469.2:p.Phe123Leu
XM_005255601.3:c.369C>G	XP_005255658.2:p.Phe123Leu
XM_011545960.1:c.369C>G	XP_011544262.1:p.Phe123Leu
XM_011545961.1:c.369C>G	XP_011544263.1:p.Phe123Leu
XM_011545962.1:c.369C>G	XP_011544264.1:p.Phe123Leu
XM_011545960.2:c.369C>G	XP_011544262.1:p.Phe123Leu
XM_011545962.2:c.369C>G	XP_011544264.1:p.Phe123Leu
XM_017023732.1:c.369C>G	XP_016879221.1:p.Phe123Leu
NM_025193.4:c.369C>G MANE Select	NP_079469.2:p.Phe123Leu
NM_001142777.2:c.369C>G	NP_001136249.1:p.Phe123Leu
NM_001142778.2:c.369C>G	NP_001136250.1:p.Phe123Leu