Canonical Allele Identifier: CA4905092

Gene: CYP11B1 GML

Linked Data

• ClinVar Variation Id: 550514
• ClinVar RCV Id: RCV000665278
• dbSNP Id: rs4541
• ExAC: 8:143956693 G / T
• gnomAD v2: 8-143956693-G-T
• gnomAD v4: 8-142875277-G-T
• MyVariant Identifiers: chr8:g.143956693G>T (hg19) ; chr8:g.142875277G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875277G>T , CM000670.2:g.142875277G>T	GRCh38
NC_000008.10:g.143956693G>T , CM000670.1:g.143956693G>T	GRCh37
NC_000008.9:g.143953695G>T	NCBI36
NG_007954.1:g.9544C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1157C>A (CYP11B1) MANE Select	ENSP00000292427.5:p.Ala386Glu
ENST00000292427.8:c.1157C>A (CYP11B1)	ENSP00000292427.4:p.Ala386Glu
ENST00000314111.4:n.1552C>A (CYP11B1)
ENST00000377675.3:c.1370C>A (CYP11B1)	ENSP00000366903.3:p.Ala457Glu
ENST00000517471.5:c.1157C>A (CYP11B1)	ENSP00000428043.1:p.Ala386Glu
ENST00000519285.5:c.191C>A (CYP11B1)	ENSP00000430144.1:p.Ala64Glu
ENST00000522728.5:c.181+34052G>T (GML)	ENSP00000430799.1:n.181+34052G>T
NM_000497.3:c.1157C>A (CYP11B1)	NP_000488.3:p.Ala386Glu
NM_001026213.1:c.1157C>A (CYP11B1)	NP_001021384.1:p.Ala386Glu
XM_011516870.1:c.1304C>A (CYP11B1)	XP_011515172.1:p.Ala435Glu
XM_011516871.1:c.1235C>A (CYP11B1)	XP_011515173.1:p.Ala412Glu
XM_011516872.1:c.1226C>A (CYP11B1)	XP_011515174.1:p.Ala409Glu
XM_011516873.1:c.1304C>A (CYP11B1)	XP_011515175.1:p.Ala435Glu
XM_011516874.1:c.1235C>A (CYP11B1)	XP_011515176.1:p.Ala412Glu
XM_011516875.1:c.1043C>A (CYP11B1)	XP_011515177.1:p.Ala348Glu
XM_011516876.1:c.1304C>A (CYP11B1)	XP_011515178.1:p.Ala435Glu
XM_011516970.1:c.214+34052G>T (GML)	XP_011515272.1:n.214+34052G>T
NM_000497.4:c.1157C>A (CYP11B1) MANE Select	NP_000488.3:p.Ala386Glu