Canonical Allele Identifier: CA730832797

Gene: HSD11B1 HSD11B1-AS1

Linked Data

• dbSNP Id: rs1192285290
• gnomAD v3: 1-209687255-A-G
• gnomAD v4: 1-209687255-A-G
• MyVariant Identifiers: chr1:g.209860600A>G (hg19) ; chr1:g.209687255A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209687255A>G , CM000663.2:g.209687255A>G	GRCh38
NC_000001.10:g.209860600A>G , CM000663.1:g.209860600A>G	GRCh37
NC_000001.9:g.207927223A>G	NCBI36
NG_012081.1:g.6051A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261465.5:c.-49+970A>G (HSD11B1)	ENSP00000261465.2:n.-49+970A>G
ENST00000367028.6:c.-49+970A>G (HSD11B1)	ENSP00000355995.1:n.-49+970A>G
ENST00000615289.4:c.-27+970A>G (HSD11B1)	ENSP00000478430.1:n.-27+970A>G
NM_001206741.1:c.-49+970A>G (HSD11B1)	NP_001193670.1:n.-49+970A>G
NM_181755.2:c.-27+970A>G (HSD11B1)	NP_861420.1:n.-27+970A>G
XR_922538.1:n.1757T>C
XR_922539.1:n.1757T>C
XR_922540.1:n.123T>C
XR_922542.1:n.3235-10722T>C (HSD11B1-AS1)
XR_922543.1:n.3226-24194T>C (HSD11B1-AS1)
XR_922547.1:n.3091-24194T>C (HSD11B1-AS1)
XR_922549.1:n.125-24194T>C (HSD11B1-AS1)
NR_134509.1:n.97-24194T>C (HSD11B1-AS1)
NR_134510.1:n.67-24194T>C (HSD11B1-AS1)
NM_001206741.2:c.-49+970A>G (HSD11B1)	NP_001193670.1:n.-49+970A>G
NM_181755.3:c.-27+970A>G (HSD11B1)	NP_861420.1:n.-27+970A>G