Canonical Allele Identifier: CA494920106

Gene: HSD3B7

Linked Data

• ClinVar Variation Id: 3049549
• ClinVar RCV Id: RCV003959359
• dbSNP Id: rs1173248937
• gnomAD v2: 16-30997808-C-T
• gnomAD v3: 16-30986487-C-T
• gnomAD v4: 16-30986487-C-T
• MyVariant Identifiers: chr16:g.30997808C>T (hg19) ; chr16:g.30986487C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986487C>T , CM000678.2:g.30986487C>T	GRCh38
NC_000016.9:g.30997808C>T , CM000678.1:g.30997808C>T	GRCh37
NC_000016.8:g.30905309C>T	NCBI36
NG_012346.1:g.6290C>T
NG_052948.1:g.34194C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.387C>T MANE Select	ENSP00000297679.5:p.Ser129=
ENST00000262520.10:c.387C>T	ENSP00000262520.6:p.Ser129=
ENST00000297679.9:c.387C>T	ENSP00000297679.5:p.Ser129=
ENST00000562932.5:c.510C>T	ENSP00000459852.1:p.Ser170=
ENST00000574447.1:c.387C>T	ENSP00000459689.1:p.Ser129=
NM_001142777.1:c.387C>T	NP_001136249.1:p.Ser129=
NM_001142778.1:c.387C>T	NP_001136250.1:p.Ser129=
NM_025193.3:c.387C>T	NP_079469.2:p.Ser129=
XM_005255601.3:c.387C>T	XP_005255658.2:p.Ser129=
XM_011545960.1:c.387C>T	XP_011544262.1:p.Ser129=
XM_011545961.1:c.387C>T	XP_011544263.1:p.Ser129=
XM_011545962.1:c.387C>T	XP_011544264.1:p.Ser129=
XM_011545960.2:c.387C>T	XP_011544262.1:p.Ser129=
XM_011545962.2:c.387C>T	XP_011544264.1:p.Ser129=
XM_017023732.1:c.387C>T	XP_016879221.1:p.Ser129=
NM_025193.4:c.387C>T MANE Select	NP_079469.2:p.Ser129=
NM_001142777.2:c.387C>T	NP_001136249.1:p.Ser129=
NM_001142778.2:c.387C>T	NP_001136250.1:p.Ser129=