Canonical Allele Identifier: CA12812314
Gene: CYP7A1 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.58500365G>T
GRCh37 chr8:g.59412924G>T
gnomAD v2:
8:59412924 G / T
gnomAD v3:
8:58500365 G / T
gnomAD v4:
chr8-58500365-G-T
Joint Max Group AF 0.66266651 (AMR)
Genomes Max Group AF 0.65223139 (AMR)
Exomes Max Group AF 0.66936827 (AMR)
ClinVar RCV:
RCV001609749
ClinVar Variation:
1229509
dbSNP:
3808607
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.58500365G>T , CM000670.2:g.58500365G>T GRCh38
NC_000008.10:g.59412924G>T , CM000670.1:g.59412924G>T GRCh37
NC_000008.9:g.59575478G>T NCBI36
NG_007969.1:g.4798C>A

Transcript Alleles

HGVS Amino-acid Change
XM_011517476.1:c.-23-244C>A XP_011515778.1:n.-23-244C>A
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