Canonical Allele Identifier: CA2661802949

Gene: ABCB11

Linked Data

• gnomAD v4: 2-168923277-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168923277C>A , CM000664.2:g.168923277C>A	GRCh38
NC_000002.11:g.169779787C>A , CM000664.1:g.169779787C>A	GRCh37
NC_000002.10:g.169488033C>A	NCBI36
NG_007374.1:g.113047G>T
NG_007374.2:g.113120G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648875.1:c.226+1380G>T
ENST00000649448.1:c.2688G>T	ENSP00000497165.1:n.2688G>T
ENST00000650372.1:c.*345G>T MANE Select	ENSP00000497931.1:n.*345G>T
ENST00000263817.6:c.*345G>T	ENSP00000263817.6:n.*345G>T
NM_003742.2:c.*345G>T	NP_003733.2:n.*345G>T
XM_006712817.2:c.*345G>T	XP_006712880.1:n.*345G>T
XM_011512077.1:c.*345G>T	XP_011510379.1:n.*345G>T
XM_011512078.1:c.*299G>T	XP_011510380.1:n.*299G>T
XM_011512079.1:c.*345G>T	XP_011510381.1:n.*345G>T
XM_011512081.1:c.*345G>T	XP_011510383.1:n.*345G>T
NM_003742.4:c.*345G>T MANE Select	NP_003733.2:n.*345G>T
XM_006712817.3:c.*345G>T	XP_006712880.1:n.*345G>T
XM_011512077.2:c.*345G>T	XP_011510379.1:n.*345G>T
XM_011512078.2:c.*299G>T	XP_011510380.1:n.*299G>T
XM_011512081.2:c.*345G>T	XP_011510383.1:n.*345G>T
XM_017005165.1:c.3867+1380G>T	XP_016860654.1:n.3867+1380G>T
XM_017005166.1:c.*345G>T	XP_016860655.1:n.*345G>T
XM_017005167.1:c.*345G>T	XP_016860656.1:n.*345G>T