Canonical Allele Identifier: CA339884

Identifiers and link-outs to other resources

ClinVar Variation Id: 1187
ClinVar RCV Id: RCV000001246
dbSNP Id: rs104894071

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142875730G>T , CM000670.2:g.142875730G>T GRCh38
NC_000008.10:g.143957146G>T , CM000670.1:g.143957146G>T GRCh37
NC_000008.9:g.143954148G>T NCBI36
NG_007954.1:g.9091C>A

Transcript Alleles

HGVS Amino-acid change
NM_000497.3:c.1103C>A (CYP11B1) VV NP_000488.3:p.Ala368Asp
NM_001026213.1:c.1103C>A (CYP11B1) VV NP_001021384.1:p.Ala368Asp
XM_011516870.1:c.1181C>A (CYP11B1) XP_011515172.1:p.Ala394Asp
XM_011516871.1:c.1181C>A (CYP11B1) XP_011515173.1:p.Ala394Asp
XM_011516872.1:c.1103C>A (CYP11B1) XP_011515174.1:p.Ala368Asp
XM_011516873.1:c.1181C>A (CYP11B1) XP_011515175.1:p.Ala394Asp
XM_011516874.1:c.1181C>A (CYP11B1) XP_011515176.1:p.Ala394Asp
XM_011516875.1:c.920C>A (CYP11B1) XP_011515177.1:p.Ala307Asp
XM_011516876.1:c.1181C>A (CYP11B1) XP_011515178.1:p.Ala394Asp
XM_011516970.1:c.214+34505G>T (GML) XP_011515272.1:p.=
ENST00000292427.8:c.1103C>A ENSP00000292427.4:p.Ala368Asp
ENST00000314111.4:n.1498C>A
ENST00000377675.3:c.1316C>A ENSP00000366903.3:p.Ala439Asp
ENST00000517471.5:c.1103C>A ENSP00000428043.1:p.Ala368Asp
ENST00000519285.5:n.68C>A ENSP00000430144.1:p.Ala23Asp
ENST00000522728.5:c.181+34505G>T ENSP00000430799.1:p.=