Canonical Allele Identifier: CA349119589

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168976688C>G , CM000664.2:g.168976688C>G	GRCh38
NC_000002.11:g.169833198C>G , CM000664.1:g.169833198C>G	GRCh37
NC_000002.10:g.169541444C>G	NCBI36
NG_007374.1:g.59636G>C
NG_007374.2:g.59709G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.1198-1G>C MANE Select	NP_003733.2:n.1198-1G>C
ENST00000650372.1:c.1198-1G>C MANE Select	ENSP00000497931.1:n.1198-1G>C
NM_003742.2:c.1198-1G>C	NP_003733.2:n.1198-1G>C
ENST00000263817.6:c.1198-1G>C	ENSP00000263817.6:n.1198-1G>C
XM_006712817.2:c.1240-1G>C	XP_006712880.1:n.1240-1G>C
XM_006712817.3:c.1240-1G>C	XP_006712880.1:n.1240-1G>C
XM_011512077.1:c.1300-1G>C	XP_011510379.1:n.1300-1G>C
XM_011512077.2:c.1300-1G>C	XP_011510379.1:n.1300-1G>C
XM_011512078.1:c.1300-1G>C	XP_011510380.1:n.1300-1G>C
XM_011512078.2:c.1300-1G>C	XP_011510380.1:n.1300-1G>C
XM_011512079.1:c.1300-1G>C	XP_011510381.1:n.1300-1G>C
XM_011512080.1:c.1300-1G>C	XP_011510382.1:n.1300-1G>C
XM_011512080.2:c.1300-1G>C	XP_011510382.1:n.1300-1G>C
XM_017005165.1:c.1300-1G>C	XP_016860654.1:n.1300-1G>C
XM_017005166.1:c.529-1G>C	XP_016860655.1:n.529-1G>C
XM_017005167.1:c.-18-1G>C	XP_016860656.1:n.-18-1G>C