Canonical Allele Identifier: CA4905332

Gene: CYP11B1 GML

Linked Data

• dbSNP Id: rs781603834
• ExAC: 8:143958171 C / G
• gnomAD v2: 8-143958171-C-G
• gnomAD v3: 8-142876755-C-G
• gnomAD v4: 8-142876755-C-G
• MyVariant Identifiers: chr8:g.143958171C>G (hg19) ; chr8:g.142876755C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142876755C>G , CM000670.2:g.142876755C>G	GRCh38
NC_000008.10:g.143958171C>G , CM000670.1:g.143958171C>G	GRCh37
NC_000008.9:g.143955173C>G	NCBI36
NG_007954.1:g.8066G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.726G>C (CYP11B1) MANE Select	ENSP00000292427.5:p.Arg242Ser
ENST00000292427.8:c.726G>C (CYP11B1)	ENSP00000292427.4:p.Arg242Ser
ENST00000314111.4:n.759G>C (CYP11B1)
ENST00000377675.3:c.939G>C (CYP11B1)	ENSP00000366903.3:p.Arg313Ser
ENST00000517471.5:c.726G>C (CYP11B1)	ENSP00000428043.1:p.Arg242Ser
ENST00000522728.5:c.181+35530C>G (GML)	ENSP00000430799.1:n.181+35530C>G
NM_000497.3:c.726G>C (CYP11B1)	NP_000488.3:p.Arg242Ser
NM_001026213.1:c.726G>C (CYP11B1)	NP_001021384.1:p.Arg242Ser
XM_011516870.1:c.804G>C (CYP11B1)	XP_011515172.1:p.Arg268Ser
XM_011516871.1:c.804G>C (CYP11B1)	XP_011515173.1:p.Arg268Ser
XM_011516872.1:c.726G>C (CYP11B1)	XP_011515174.1:p.Arg242Ser
XM_011516873.1:c.804G>C (CYP11B1)	XP_011515175.1:p.Arg268Ser
XM_011516874.1:c.804G>C (CYP11B1)	XP_011515176.1:p.Arg268Ser
XM_011516875.1:c.543G>C (CYP11B1)	XP_011515177.1:p.Arg181Ser
XM_011516876.1:c.804G>C (CYP11B1)	XP_011515178.1:p.Arg268Ser
XM_011516970.1:c.214+35530C>G (GML)	XP_011515272.1:n.214+35530C>G
NM_000497.4:c.726G>C (CYP11B1) MANE Select	NP_000488.3:p.Arg242Ser