Canonical Allele Identifier: CA352300484
Gene: CYP8B1 HGNC NCBI
KRBOX1 HGNC NCBI
ACKR2 HGNC NCBI
ClinVar RCV:
RCV004180346
ClinVar Variation:
2338033
dbSNP:
1253804830
gnomAD v2:
3:42916933 C / T
gnomAD v4:
chr3-42875441-C-T
MyVariant.info:
GRCh38 chr3:g.42875441C>T
GRCh37 chr3:g.42916933C>T
Revel Score:
ENST00000437102 0.017
ENST00000316161 (MANE Select) 0.017
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.42875441C>T , CM000665.2:g.42875441C>T GRCh38
NC_000003.11:g.42916933C>T , CM000665.1:g.42916933C>T GRCh37
NC_000003.10:g.42891937C>T NCBI36
NG_007970.1:g.5701G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000316161.6:c.376G>A (CYP8B1) MANE Select ENSP00000318867.4:p.Ala126Thr
ENST00000316161.5:c.376G>A (CYP8B1) ENSP00000318867.4:p.Ala126Thr
ENST00000426937.5:c.-163-33352C>T (KRBOX1) ENSP00000413859.1:n.-163-33352C>T
ENST00000437102.1:c.376G>A (CYP8B1) ENSP00000404499.1:p.Ala126Thr
ENST00000451200.6:n.168+55730C>T
ENST00000460855.5:n.471+10582C>T (ACKR2)
ENST00000498111.5:n.546+10582C>T (ACKR2)
NM_004391.2:c.376G>A (CYP8B1) NP_004382.2:p.Ala126Thr
NM_004391.3:c.376G>A (CYP8B1) MANE Select NP_004382.2:p.Ala126Thr
Search 100 bp 5'
Search 100 bp 3'