Canonical Allele Identifier: CA4906398
Gene: CYP11B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 369596
ClinVar RCV Id: RCV000291813 RCV000345330 RCV000381522
dbSNP Id: rs6440
ExAC: 8:143999270 C / G
gnomAD v2: 8-143999270-C-G
gnomAD v3: 8-142917854-C-G
gnomAD v4: 8-142917854-C-G
MyVariant Identifiers: chr8:g.143999270C>G (hg19) chr8:g.142917854C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142917854C>G , CM000670.2:g.142917854C>G GRCh38
NC_000008.10:g.143999270C>G , CM000670.1:g.143999270C>G GRCh37
NC_000008.9:g.143996272C>G NCBI36
NG_008374.1:g.4990G>C

Transcript Alleles

HGVS Amino-acid change
XM_011516877.1:c.-14G>C XP_011515179.1:n.-14G>C
XM_011516878.1:c.-14G>C XP_011515180.1:n.-14G>C
XM_011516879.1:c.-14G>C XP_011515181.1:n.-14G>C
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