Canonical Allele Identifier: CA12726514
Gene: CYP7A1 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.58491017C>T
GRCh37 chr8:g.59403576C>T
gnomAD v2:
8:59403576 C / T
gnomAD v3:
8:58491017 C / T
gnomAD v4:
chr8-58491017-C-T
Joint Max Group AF 0.45517437 (AMR)
Genomes Max Group AF 0.45464331 (AMR)
Exomes Max Group AF 0.42265459 (AMR)
dbSNP:
8192879
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.58491017C>T , CM000670.2:g.58491017C>T GRCh38
NC_000008.10:g.59403576C>T , CM000670.1:g.59403576C>T GRCh37
NC_000008.9:g.59566130C>T NCBI36
NG_007969.1:g.14146G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301645.4:c.*458G>A MANE Select ENSP00000301645.3:n.*458G>A
ENST00000301645.3:c.*458G>A ENSP00000301645.3:n.*458G>A
NM_000780.3:c.*458G>A NP_000771.2:n.*458G>A
NM_000780.4:c.*458G>A MANE Select NP_000771.2:n.*458G>A
Search 100 bp 5'
Search 100 bp 3'