Canonical Allele Identifier: CA16336071
Gene: CYP7A1 HGNC NCBI
COSMIC:
COSN20560653 (not active)
MyVariant.info:
GRCh38 chr8:g.58500631A>G
GRCh37 chr8:g.59413190A>G
gnomAD v2:
8:59413190 A / G
gnomAD v3:
8:58500631 A / G
gnomAD v4:
chr8-58500631-A-G
Joint Max Group AF 0.66124851 (AMR)
Genomes Max Group AF 0.66124851 (AMR)
dbSNP:
3824260
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.58500631A>G , CM000670.2:g.58500631A>G GRCh38
NC_000008.10:g.59413190A>G , CM000670.1:g.59413190A>G GRCh37
NC_000008.9:g.59575744A>G NCBI36
NG_007969.1:g.4532T>C

Transcript Alleles

HGVS Amino-acid Change
XM_011517476.1:c.-24+284T>C XP_011515778.1:n.-24+284T>C
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