Canonical Allele Identifier: CA1951566
Community Standard Title: NM_003742.4(ABCB11):c.1435-11A>G
Gene: ABCB11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168972061T>C , CM000664.2:g.168972061T>C GRCh38
NC_000002.11:g.169828571T>C , CM000664.1:g.169828571T>C GRCh37
NC_000002.10:g.169536817T>C NCBI36
NG_007374.1:g.64263A>G
NG_007374.2:g.64336A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003742.4:c.1435-11A>G MANE Select NP_003733.2:n.1435-11A>G
ENST00000650372.1:c.1435-11A>G MANE Select ENSP00000497931.1:n.1435-11A>G
NM_003742.2:c.1435-11A>G NP_003733.2:n.1435-11A>G
ENST00000263817.6:c.1435-11A>G ENSP00000263817.6:n.1435-11A>G
XM_006712817.2:c.1477-11A>G XP_006712880.1:n.1477-11A>G
XM_006712817.3:c.1477-11A>G XP_006712880.1:n.1477-11A>G
XM_011512077.1:c.1537-11A>G XP_011510379.1:n.1537-11A>G
XM_011512077.2:c.1537-11A>G XP_011510379.1:n.1537-11A>G
XM_011512078.1:c.1537-11A>G XP_011510380.1:n.1537-11A>G
XM_011512078.2:c.1537-11A>G XP_011510380.1:n.1537-11A>G
XM_011512079.1:c.1537-11A>G XP_011510381.1:n.1537-11A>G
XM_011512080.1:c.1537-11A>G XP_011510382.1:n.1537-11A>G
XM_011512080.2:c.1537-11A>G XP_011510382.1:n.1537-11A>G
XM_017005165.1:c.1537-11A>G XP_016860654.1:n.1537-11A>G
XM_017005166.1:c.766-11A>G XP_016860655.1:n.766-11A>G
XM_017005167.1:c.220-11A>G XP_016860656.1:n.220-11A>G