Canonical Allele Identifier: CA8018121

Gene: HSD3B7

Linked Data

• ClinVar Variation Id: 498800
• ClinVar RCV Id: RCV000594015
• dbSNP Id: rs376286513
• ExAC: 16:30999231 C / T
• gnomAD v2: 16-30999231-C-T
• gnomAD v3: 16-30987910-C-T
• gnomAD v4: 16-30987910-C-T
• COSMIC: COSM4060290
• MyVariant Identifiers: chr16:g.30999231C>T (hg19) ; chr16:g.30987910C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30987910C>T , CM000678.2:g.30987910C>T	GRCh38
NC_000016.9:g.30999231C>T , CM000678.1:g.30999231C>T	GRCh37
NC_000016.8:g.30906732C>T	NCBI36
NG_012346.1:g.7713C>T
NG_041829.1:g.27599G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.837C>T MANE Select	ENSP00000297679.5:p.Cys279=
ENST00000262520.10:c.*83C>T	ENSP00000262520.6:n.*83C>T
ENST00000297679.9:c.837C>T	ENSP00000297679.5:p.Cys279=
NM_001142777.1:c.*83C>T	NP_001136249.1:n.*83C>T
NM_001142778.1:c.*83C>T	NP_001136250.1:n.*83C>T
NM_025193.3:c.837C>T	NP_079469.2:p.Cys279=
XM_005255601.3:c.837C>T	XP_005255658.2:p.Cys279=
XM_011545960.1:c.837C>T	XP_011544262.1:p.Cys279=
XM_011545961.1:c.837C>T	XP_011544263.1:p.Cys279=
XM_011545962.1:c.*83C>T	XP_011544264.1:n.*83C>T
XM_011545960.2:c.837C>T	XP_011544262.1:p.Cys279=
XM_011545962.2:c.*83C>T	XP_011544264.1:n.*83C>T
XM_017023732.1:c.*83C>T	XP_016879221.1:n.*83C>T
NM_025193.4:c.837C>T MANE Select	NP_079469.2:p.Cys279=
NM_001142777.2:c.*83C>T	NP_001136249.1:n.*83C>T
NM_001142778.2:c.*83C>T	NP_001136250.1:n.*83C>T