Canonical Allele Identifier: CA4906376

Gene: CYP11B2

Linked Data

• ClinVar Variation Id: 362229
• ClinVar RCV Id: RCV000268061 ; RCV000320888 ; RCV000377865 ; RCV001271162 ; RCV000969225
• dbSNP Id: rs6441
• ExAC: 8:143999168 C / T
• gnomAD v2: 8-143999168-C-T
• gnomAD v3: 8-142917752-C-T
• gnomAD v4: 8-142917752-C-T
• COSMIC: COSM1755598
• MyVariant Identifiers: chr8:g.143999168C>T (hg19) ; chr8:g.142917752C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142917752C>T , CM000670.2:g.142917752C>T	GRCh38
NC_000008.10:g.143999168C>T , CM000670.1:g.143999168C>T	GRCh37
NC_000008.9:g.143996170C>T	NCBI36
NG_008374.1:g.5092G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323110.2:c.89G>A MANE Select	ENSP00000325822.2:p.Arg30Gln
NM_000498.3:c.89G>A MANE Select	NP_000489.3:p.Arg30Gln
XM_011516877.1:c.89G>A	XP_011515179.1:p.Arg30Gln
XM_011516878.1:c.89G>A	XP_011515180.1:p.Arg30Gln
XM_011516879.1:c.89G>A	XP_011515181.1:p.Arg30Gln