Canonical Allele Identifier: CA4905292

Gene: CYP11B1 GML

Linked Data

• ClinVar Variation Id: 2004571
• ClinVar RCV Id: RCV002816190
• dbSNP Id: rs769081498
• ExAC: 8:143957807 G / A
• gnomAD v2: 8-143957807-G-A
• gnomAD v4: 8-142876391-G-A
• MyVariant Identifiers: chr8:g.143957807G>A (hg19) ; chr8:g.142876391G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142876391G>A , CM000670.2:g.142876391G>A	GRCh38
NC_000008.10:g.143957807G>A , CM000670.1:g.143957807G>A	GRCh37
NC_000008.9:g.143954809G>A	NCBI36
NG_007954.1:g.8430C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.804C>T (CYP11B1) MANE Select	ENSP00000292427.5:p.Asp268=
ENST00000292427.8:c.804C>T (CYP11B1)	ENSP00000292427.4:p.Asp268=
ENST00000314111.4:n.837C>T (CYP11B1)
ENST00000377675.3:c.1017C>T (CYP11B1)	ENSP00000366903.3:p.Asp339=
ENST00000517471.5:c.804C>T (CYP11B1)	ENSP00000428043.1:p.Asp268=
ENST00000522728.5:c.181+35166G>A (GML)	ENSP00000430799.1:n.181+35166G>A
NM_000497.3:c.804C>T (CYP11B1)	NP_000488.3:p.Asp268=
NM_001026213.1:c.804C>T (CYP11B1)	NP_001021384.1:p.Asp268=
XM_011516870.1:c.882C>T (CYP11B1)	XP_011515172.1:p.Asp294=
XM_011516871.1:c.882C>T (CYP11B1)	XP_011515173.1:p.Asp294=
XM_011516872.1:c.804C>T (CYP11B1)	XP_011515174.1:p.Asp268=
XM_011516873.1:c.882C>T (CYP11B1)	XP_011515175.1:p.Asp294=
XM_011516874.1:c.882C>T (CYP11B1)	XP_011515176.1:p.Asp294=
XM_011516875.1:c.621C>T (CYP11B1)	XP_011515177.1:p.Asp207=
XM_011516876.1:c.882C>T (CYP11B1)	XP_011515178.1:p.Asp294=
XM_011516970.1:c.214+35166G>A (GML)	XP_011515272.1:n.214+35166G>A
NM_000497.4:c.804C>T (CYP11B1) MANE Select	NP_000488.3:p.Asp268=