Canonical Allele Identifier: CA4905100

Linked Data

ClinVar Variation Id: 2013800
ClinVar RCV Id: RCV002829681
dbSNP Id: rs764996968

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142875311G>C , CM000670.2:g.142875311G>C GRCh38
NC_000008.10:g.143956727G>C , CM000670.1:g.143956727G>C GRCh37
NC_000008.9:g.143953729G>C NCBI36
NG_007954.1:g.9510C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000292427.10:c.1123C>G (CYP11B1) MANE Select ENSP00000292427.5:p.Leu375Val
ENST00000292427.8:c.1123C>G (CYP11B1) ENSP00000292427.4:p.Leu375Val
ENST00000314111.4:n.1518C>G (CYP11B1)
ENST00000377675.3:c.1336C>G (CYP11B1) ENSP00000366903.3:p.Leu446Val
ENST00000517471.5:c.1123C>G (CYP11B1) ENSP00000428043.1:p.Leu375Val
ENST00000519285.5:c.157C>G (CYP11B1) ENSP00000430144.1:p.Leu53Val
ENST00000522728.5:c.181+34086G>C (GML) ENSP00000430799.1:n.181+34086G>C
NM_000497.3:c.1123C>G (CYP11B1) NP_000488.3:p.Leu375Val
NM_001026213.1:c.1123C>G (CYP11B1) NP_001021384.1:p.Leu375Val
XM_011516870.1:c.1270C>G (CYP11B1) XP_011515172.1:p.Leu424Val
XM_011516871.1:c.1201C>G (CYP11B1) XP_011515173.1:p.Leu401Val
XM_011516872.1:c.1192C>G (CYP11B1) XP_011515174.1:p.Leu398Val
XM_011516873.1:c.1270C>G (CYP11B1) XP_011515175.1:p.Leu424Val
XM_011516874.1:c.1201C>G (CYP11B1) XP_011515176.1:p.Leu401Val
XM_011516875.1:c.1009C>G (CYP11B1) XP_011515177.1:p.Leu337Val
XM_011516876.1:c.1270C>G (CYP11B1) XP_011515178.1:p.Leu424Val
XM_011516970.1:c.214+34086G>C (GML) XP_011515272.1:n.214+34086G>C
NM_000497.4:c.1123C>G (CYP11B1) MANE Select NP_000488.3:p.Leu375Val