Canonical Allele Identifier: CA8018004

Gene: HSD3B7

Linked Data

• dbSNP Id: rs151234025
• ExAC: 16:30997965 C / A
• gnomAD v2: 16-30997965-C-A
• gnomAD v3: 16-30986644-C-A
• gnomAD v4: 16-30986644-C-A
• MyVariant Identifiers: chr16:g.30997965C>A (hg19) ; chr16:g.30986644C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986644C>A , CM000678.2:g.30986644C>A	GRCh38
NC_000016.9:g.30997965C>A , CM000678.1:g.30997965C>A	GRCh37
NC_000016.8:g.30905466C>A	NCBI36
NG_012346.1:g.6447C>A
NG_052948.1:g.34351C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.471C>A MANE Select	ENSP00000297679.5:p.His157Gln
ENST00000262520.10:c.471C>A	ENSP00000262520.6:p.His157Gln
ENST00000297679.9:c.471C>A	ENSP00000297679.5:p.His157Gln
ENST00000562932.5:c.594C>A	ENSP00000459852.1:p.His198Gln
ENST00000574447.1:c.471C>A	ENSP00000459689.1:p.His157Gln
NM_001142777.1:c.471C>A	NP_001136249.1:p.His157Gln
NM_001142778.1:c.471C>A	NP_001136250.1:p.His157Gln
NM_025193.3:c.471C>A	NP_079469.2:p.His157Gln
XM_005255601.3:c.471C>A	XP_005255658.2:p.His157Gln
XM_011545960.1:c.471C>A	XP_011544262.1:p.His157Gln
XM_011545961.1:c.471C>A	XP_011544263.1:p.His157Gln
XM_011545962.1:c.471C>A	XP_011544264.1:p.His157Gln
XM_011545960.2:c.471C>A	XP_011544262.1:p.His157Gln
XM_011545962.2:c.471C>A	XP_011544264.1:p.His157Gln
XM_017023732.1:c.471C>A	XP_016879221.1:p.His157Gln
NM_025193.4:c.471C>A MANE Select	NP_079469.2:p.His157Gln
NM_001142777.2:c.471C>A	NP_001136249.1:p.His157Gln
NM_001142778.2:c.471C>A	NP_001136250.1:p.His157Gln