Canonical Allele Identifier: CA1360535344

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.42867668G>T , CM000665.2:g.42867668G>T GRCh38
NC_000003.11:g.42909160G>T , CM000665.1:g.42909160G>T GRCh37
NC_000003.10:g.42884164G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000426937.5:c.-163-41125G>T (KRBOX1) ENSP00000413859.1:n.-163-41125G>T
ENST00000437102.1:c.1347+6802C>A (CYP8B1) ENSP00000404499.1:n.1347+6802C>A
ENST00000451200.6:n.168+47957G>T
ENST00000460855.5:n.471+2809G>T (ACKR2)
ENST00000498111.5:n.546+2809G>T (ACKR2)