Canonical Allele Identifier: CA848685742

Gene: CYP11B1 GML

Linked Data

• dbSNP Id: rs1482208318
• gnomAD v3: 8-142875642-G-A
• gnomAD v4: 8-142875642-G-A
• MyVariant Identifiers: chr8:g.143957058G>A (hg19) ; chr8:g.142875642G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875642G>A , CM000670.2:g.142875642G>A	GRCh38
NC_000008.10:g.143957058G>A , CM000670.1:g.143957058G>A	GRCh37
NC_000008.9:g.143954060G>A	NCBI36
NG_007954.1:g.9179C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000292427.10:c.1121+70C>T (CYP11B1) MANE Select	ENSP00000292427.5:n.1121+70C>T
ENST00000292427.8:c.1121+70C>T (CYP11B1)	ENSP00000292427.4:n.1121+70C>T
ENST00000314111.4:n.1516+70C>T (CYP11B1)
ENST00000377675.3:c.1334+70C>T (CYP11B1)	ENSP00000366903.3:n.1334+70C>T
ENST00000517471.5:c.1121+70C>T (CYP11B1)	ENSP00000428043.1:n.1121+70C>T
ENST00000519285.5:c.86+70C>T (CYP11B1)	ENSP00000430144.1:n.86+70C>T
ENST00000522728.5:c.181+34417G>A (GML)	ENSP00000430799.1:n.181+34417G>A
NM_000497.3:c.1121+70C>T (CYP11B1)	NP_000488.3:n.1121+70C>T
NM_001026213.1:c.1121+70C>T (CYP11B1)	NP_001021384.1:n.1121+70C>T
XM_011516870.1:c.1199+70C>T (CYP11B1)	XP_011515172.1:n.1199+70C>T
XM_011516871.1:c.1199+70C>T (CYP11B1)	XP_011515173.1:n.1199+70C>T
XM_011516872.1:c.1121+70C>T (CYP11B1)	XP_011515174.1:n.1121+70C>T
XM_011516873.1:c.1199+70C>T (CYP11B1)	XP_011515175.1:n.1199+70C>T
XM_011516874.1:c.1199+70C>T (CYP11B1)	XP_011515176.1:n.1199+70C>T
XM_011516875.1:c.938+70C>T (CYP11B1)	XP_011515177.1:n.938+70C>T
XM_011516876.1:c.1199+70C>T (CYP11B1)	XP_011515178.1:n.1199+70C>T
XM_011516970.1:c.214+34417G>A (GML)	XP_011515272.1:n.214+34417G>A
NM_000497.4:c.1121+70C>T (CYP11B1) MANE Select	NP_000488.3:n.1121+70C>T