Canonical Allele Identifier: CA1951841
Gene: ABCB11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168995348C>T , CM000664.2:g.168995348C>T GRCh38
NC_000002.11:g.169851858C>T , CM000664.1:g.169851858C>T GRCh37
NC_000002.10:g.169560104C>T NCBI36
NG_007374.1:g.40976G>A
NG_007374.2:g.41049G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650372.1:c.611+1G>A MANE Select ENSP00000497931.1:n.611+1G>A
ENST00000263817.6:c.611+1G>A ENSP00000263817.6:n.611+1G>A
NM_003742.2:c.611+1G>A NP_003733.2:n.611+1G>A
XM_006712817.2:c.653+1G>A XP_006712880.1:n.653+1G>A
XM_011512077.1:c.713+1G>A XP_011510379.1:n.713+1G>A
XM_011512078.1:c.713+1G>A XP_011510380.1:n.713+1G>A
XM_011512079.1:c.713+1G>A XP_011510381.1:n.713+1G>A
XM_011512080.1:c.713+1G>A XP_011510382.1:n.713+1G>A
NM_003742.4:c.611+1G>A MANE Select NP_003733.2:n.611+1G>A
XM_006712817.3:c.653+1G>A XP_006712880.1:n.653+1G>A
XM_011512077.2:c.713+1G>A XP_011510379.1:n.713+1G>A
XM_011512078.2:c.713+1G>A XP_011510380.1:n.713+1G>A
XM_011512080.2:c.713+1G>A XP_011510382.1:n.713+1G>A
XM_017005165.1:c.713+1G>A XP_016860654.1:n.713+1G>A
XM_017005166.1:c.-4+1G>A XP_016860655.1:n.-4+1G>A