Canonical Allele Identifier: CA1360537364

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000316161.6:c.*1791A>C (CYP8B1) MANE Select ENSP00000318867.4:n.*1791A>C
ENST00000316161.5:c.*1791A>C (CYP8B1) ENSP00000318867.4:n.*1791A>C
ENST00000426937.5:c.-163-36273T>G (KRBOX1) ENSP00000413859.1:n.-163-36273T>G
ENST00000437102.1:c.1347+1950A>C (CYP8B1) ENSP00000404499.1:n.1347+1950A>C
ENST00000451200.6:n.168+52809T>G
ENST00000460855.5:n.471+7661T>G (ACKR2)
ENST00000498111.5:n.546+7661T>G (ACKR2)
NM_004391.2:c.*1791A>C (CYP8B1) NP_004382.2:n.*1791A>C
NM_004391.3:c.*1791A>C (CYP8B1) MANE Select NP_004382.2:n.*1791A>C