Canonical Allele Identifier: CA1036063

Gene: HSD3B2

Linked Data

• ClinVar Variation Id: 937691
• ClinVar RCV Id: RCV001206762 ; RCV001833816 ; RCV003405390 ; RCV003486965
• dbSNP Id: rs781213951
• ExAC: 1:119965055 C / T
• gnomAD v2: 1-119965055-C-T
• gnomAD v4: 1-119422432-C-T
• MyVariant Identifiers: chr1:g.119965055C>T (hg19) ; chr1:g.119422432C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119422432C>T , CM000663.2:g.119422432C>T	GRCh38
NC_000001.10:g.119965055C>T , CM000663.1:g.119965055C>T	GRCh37
NC_000001.9:g.119766578C>T	NCBI36
NG_013349.1:g.12502C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369416.4:c.931C>T MANE Select	ENSP00000358424.3:p.Gln311Ter
ENST00000369416.3:c.931C>T	ENSP00000358424.3:p.Gln311Ter
ENST00000543831.5:c.931C>T	ENSP00000445122.1:p.Gln311Ter
NM_000198.3:c.931C>T	NP_000189.1:p.Gln311Ter
NM_001166120.1:c.931C>T	NP_001159592.1:p.Gln311Ter
NM_000198.4:c.931C>T MANE Select	NP_000189.1:p.Gln311Ter
NM_001166120.2:c.931C>T	NP_001159592.1:p.Gln311Ter