Canonical Allele Identifier: CA4905576

Gene: CYP11B1 GML

Linked Data

• ClinVar Variation Id: 2353904
• ClinVar RCV Id: RCV002952085
• dbSNP Id: rs376893751
• ExAC: 8:143960587 C / G
• gnomAD v2: 8-143960587-C-G
• gnomAD v3: 8-142879171-C-G
• gnomAD v4: 8-142879171-C-G
• MyVariant Identifiers: chr8:g.143960587C>G (hg19) ; chr8:g.142879171C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142879171C>G , CM000670.2:g.142879171C>G	GRCh38
NC_000008.10:g.143960587C>G , CM000670.1:g.143960587C>G	GRCh37
NC_000008.9:g.143957589C>G	NCBI36
NG_007954.1:g.5650G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.256G>C (CYP11B1) MANE Select	ENSP00000292427.5:p.Ala86Pro
ENST00000292427.8:c.256G>C (CYP11B1)	ENSP00000292427.4:p.Ala86Pro
ENST00000314111.4:n.289G>C (CYP11B1)
ENST00000377675.3:c.391G>C (CYP11B1)	ENSP00000366903.3:p.Ala131Pro
ENST00000517471.5:c.256G>C (CYP11B1)	ENSP00000428043.1:p.Ala86Pro
ENST00000522728.5:c.182-34792C>G (GML)	ENSP00000430799.1:n.182-34792C>G
NM_000497.3:c.256G>C (CYP11B1)	NP_000488.3:p.Ala86Pro
NM_001026213.1:c.256G>C (CYP11B1)	NP_001021384.1:p.Ala86Pro
XM_011516870.1:c.256G>C (CYP11B1)	XP_011515172.1:p.Ala86Pro
XM_011516871.1:c.256G>C (CYP11B1)	XP_011515173.1:p.Ala86Pro
XM_011516872.1:c.256G>C (CYP11B1)	XP_011515174.1:p.Ala86Pro
XM_011516873.1:c.256G>C (CYP11B1)	XP_011515175.1:p.Ala86Pro
XM_011516874.1:c.256G>C (CYP11B1)	XP_011515176.1:p.Ala86Pro
XM_011516875.1:c.-6G>C (CYP11B1)	XP_011515177.1:n.-6G>C
XM_011516876.1:c.256G>C (CYP11B1)	XP_011515178.1:p.Ala86Pro
XM_011516970.1:c.215-34792C>G (GML)	XP_011515272.1:n.215-34792C>G
NM_000497.4:c.256G>C (CYP11B1) MANE Select	NP_000488.3:p.Ala86Pro