Canonical Allele Identifier: CA2661808210

Gene: ABCB11

Linked Data

• gnomAD v4: 2-168996510-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168996510C>A , CM000664.2:g.168996510C>A	GRCh38
NC_000002.11:g.169853020C>A , CM000664.1:g.169853020C>A	GRCh37
NC_000002.10:g.169561266C>A	NCBI36
NG_007374.1:g.39814G>T
NG_007374.2:g.39887G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650372.1:c.477+125G>T MANE Select	ENSP00000497931.1:n.477+125G>T
ENST00000263817.6:c.477+125G>T	ENSP00000263817.6:n.477+125G>T
NM_003742.2:c.477+125G>T	NP_003733.2:n.477+125G>T
XM_006712817.2:c.519+125G>T	XP_006712880.1:n.519+125G>T
XM_011512077.1:c.579+125G>T	XP_011510379.1:n.579+125G>T
XM_011512078.1:c.579+125G>T	XP_011510380.1:n.579+125G>T
XM_011512079.1:c.579+125G>T	XP_011510381.1:n.579+125G>T
XM_011512080.1:c.579+125G>T	XP_011510382.1:n.579+125G>T
NM_003742.4:c.477+125G>T MANE Select	NP_003733.2:n.477+125G>T
XM_006712817.3:c.519+125G>T	XP_006712880.1:n.519+125G>T
XM_011512077.2:c.579+125G>T	XP_011510379.1:n.579+125G>T
XM_011512078.2:c.579+125G>T	XP_011510380.1:n.579+125G>T
XM_011512080.2:c.579+125G>T	XP_011510382.1:n.579+125G>T
XM_017005165.1:c.579+125G>T	XP_016860654.1:n.579+125G>T