Canonical Allele Identifier: CA1306205600

Gene: ABCB11

Linked Data

• dbSNP Id: rs1691150070
• gnomAD v4: 2-168923228-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168923228G>T , CM000664.2:g.168923228G>T	GRCh38
NC_000002.11:g.169779738G>T , CM000664.1:g.169779738G>T	GRCh37
NC_000002.10:g.169487984G>T	NCBI36
NG_007374.1:g.113096C>A
NG_007374.2:g.113169C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648875.1:c.226+1429C>A
ENST00000649448.1:c.2737C>A	ENSP00000497165.1:n.2737C>A
ENST00000650372.1:c.*394C>A MANE Select	ENSP00000497931.1:n.*394C>A
ENST00000263817.6:c.*394C>A	ENSP00000263817.6:n.*394C>A
NM_003742.2:c.*394C>A	NP_003733.2:n.*394C>A
XM_006712817.2:c.*394C>A	XP_006712880.1:n.*394C>A
XM_011512077.1:c.*394C>A	XP_011510379.1:n.*394C>A
XM_011512078.1:c.*348C>A	XP_011510380.1:n.*348C>A
XM_011512079.1:c.*394C>A	XP_011510381.1:n.*394C>A
XM_011512081.1:c.*394C>A	XP_011510383.1:n.*394C>A
NM_003742.4:c.*394C>A MANE Select	NP_003733.2:n.*394C>A
XM_006712817.3:c.*394C>A	XP_006712880.1:n.*394C>A
XM_011512077.2:c.*394C>A	XP_011510379.1:n.*394C>A
XM_011512078.2:c.*348C>A	XP_011510380.1:n.*348C>A
XM_011512081.2:c.*394C>A	XP_011510383.1:n.*394C>A
XM_017005165.1:c.3867+1429C>A	XP_016860654.1:n.3867+1429C>A
XM_017005166.1:c.*394C>A	XP_016860655.1:n.*394C>A
XM_017005167.1:c.*394C>A	XP_016860656.1:n.*394C>A