Canonical Allele Identifier: CA11498710
Gene: CYP8B1 HGNC NCBI
KRBOX1 HGNC NCBI
ACKR2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.42872520T>C
GRCh37 chr3:g.42914012T>C
gnomAD v2:
3:42914012 T / C
gnomAD v3:
3:42872520 T / C
gnomAD v4:
chr3-42872520-T-C
Joint Max Group AF 0.79402036 (EAS)
Genomes Max Group AF 0.79394567 (EAS)
Exomes Max Group AF 0.33453159 (NFE)
dbSNP:
3732860
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.42872520T>C , CM000665.2:g.42872520T>C GRCh38
NC_000003.11:g.42914012T>C , CM000665.1:g.42914012T>C GRCh37
NC_000003.10:g.42889016T>C NCBI36
NG_007970.1:g.8622A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000316161.6:c.*1791A>G (CYP8B1) MANE Select ENSP00000318867.4:n.*1791A>G
ENST00000316161.5:c.*1791A>G (CYP8B1) ENSP00000318867.4:n.*1791A>G
ENST00000426937.5:c.-163-36273T>C (KRBOX1) ENSP00000413859.1:n.-163-36273T>C
ENST00000437102.1:c.1347+1950A>G (CYP8B1) ENSP00000404499.1:n.1347+1950A>G
ENST00000451200.6:n.168+52809T>C
ENST00000460855.5:n.471+7661T>C (ACKR2)
ENST00000498111.5:n.546+7661T>C (ACKR2)
NM_004391.2:c.*1791A>G (CYP8B1) NP_004382.2:n.*1791A>G
NM_004391.3:c.*1791A>G (CYP8B1) MANE Select NP_004382.2:n.*1791A>G
Search 100 bp 5'
Search 100 bp 3'