Canonical Allele Identifier: CA537526898

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168924641G>C , CM000664.2:g.168924641G>C	GRCh38
NC_000002.11:g.169781151G>C , CM000664.1:g.169781151G>C	GRCh37
NC_000002.10:g.169489397G>C	NCBI36
NG_007374.1:g.111683C>G
NG_007374.2:g.111756C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.3765+16C>G MANE Select	NP_003733.2:n.3765+16C>G
ENST00000650372.1:c.3765+16C>G MANE Select	ENSP00000497931.1:n.3765+16C>G
NM_003742.2:c.3765+16C>G	NP_003733.2:n.3765+16C>G
ENST00000263817.6:c.3765+16C>G	ENSP00000263817.6:n.3765+16C>G
ENST00000439188.1:c.2382+16C>G	ENSP00000416058.1:n.2382+16C>G
ENST00000648875.1:c.226+16C>G
ENST00000649448.1:c.2142+16C>G	ENSP00000497165.1:n.2142+16C>G
XM_006712817.2:c.3807+16C>G	XP_006712880.1:n.3807+16C>G
XM_006712817.3:c.3807+16C>G	XP_006712880.1:n.3807+16C>G
XM_011512077.1:c.3867+16C>G	XP_011510379.1:n.3867+16C>G
XM_011512077.2:c.3867+16C>G	XP_011510379.1:n.3867+16C>G
XM_011512078.1:c.3867+16C>G	XP_011510380.1:n.3867+16C>G
XM_011512078.2:c.3867+16C>G	XP_011510380.1:n.3867+16C>G
XM_011512079.1:c.3867+16C>G	XP_011510381.1:n.3867+16C>G
XM_011512081.1:c.2091+16C>G	XP_011510383.1:n.2091+16C>G
XM_011512081.2:c.2091+16C>G	XP_011510383.1:n.2091+16C>G
XM_017005165.1:c.3867+16C>G	XP_016860654.1:n.3867+16C>G
XM_017005166.1:c.3096+16C>G	XP_016860655.1:n.3096+16C>G
XM_017005167.1:c.2550+16C>G	XP_016860656.1:n.2550+16C>G