Canonical Allele Identifier: CA1039040123

Gene: ABCB11

Linked Data

• dbSNP Id: rs752531055
• gnomAD v3: 2-168923259-G-A
• gnomAD v4: 2-168923259-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168923259G>A , CM000664.2:g.168923259G>A	GRCh38
NC_000002.11:g.169779769G>A , CM000664.1:g.169779769G>A	GRCh37
NC_000002.10:g.169488015G>A	NCBI36
NG_007374.1:g.113065C>T
NG_007374.2:g.113138C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000648875.1:c.226+1398C>T
ENST00000649448.1:c.2706C>T	ENSP00000497165.1:n.2706C>T
ENST00000650372.1:c.*363C>T MANE Select	ENSP00000497931.1:n.*363C>T
ENST00000263817.6:c.*363C>T	ENSP00000263817.6:n.*363C>T
NM_003742.2:c.*363C>T	NP_003733.2:n.*363C>T
XM_006712817.2:c.*363C>T	XP_006712880.1:n.*363C>T
XM_011512077.1:c.*363C>T	XP_011510379.1:n.*363C>T
XM_011512078.1:c.*317C>T	XP_011510380.1:n.*317C>T
XM_011512079.1:c.*363C>T	XP_011510381.1:n.*363C>T
XM_011512081.1:c.*363C>T	XP_011510383.1:n.*363C>T
NM_003742.4:c.*363C>T MANE Select	NP_003733.2:n.*363C>T
XM_006712817.3:c.*363C>T	XP_006712880.1:n.*363C>T
XM_011512077.2:c.*363C>T	XP_011510379.1:n.*363C>T
XM_011512078.2:c.*317C>T	XP_011510380.1:n.*317C>T
XM_011512081.2:c.*363C>T	XP_011510383.1:n.*363C>T
XM_017005165.1:c.3867+1398C>T	XP_016860654.1:n.3867+1398C>T
XM_017005166.1:c.*363C>T	XP_016860655.1:n.*363C>T
XM_017005167.1:c.*363C>T	XP_016860656.1:n.*363C>T