Canonical Allele Identifier: CA59895196

Gene: ABCB11

Linked Data

• dbSNP Id: rs944431446
• gnomAD v3: 2-168990721-C-T
• gnomAD v4: 2-168990721-C-T
• MyVariant Identifiers: chr2:g.169847231C>T (hg19) ; chr2:g.168990721C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168990721C>T , CM000664.2:g.168990721C>T	GRCh38
NC_000002.11:g.169847231C>T , CM000664.1:g.169847231C>T	GRCh37
NC_000002.10:g.169555477C>T	NCBI36
NG_007374.1:g.45603G>A
NG_007374.2:g.45676G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650372.1:c.908+80G>A MANE Select	ENSP00000497931.1:n.908+80G>A
ENST00000263817.6:c.908+80G>A	ENSP00000263817.6:n.908+80G>A
NM_003742.2:c.908+80G>A	NP_003733.2:n.908+80G>A
XM_006712817.2:c.950+80G>A	XP_006712880.1:n.950+80G>A
XM_011512077.1:c.1010+80G>A	XP_011510379.1:n.1010+80G>A
XM_011512078.1:c.1010+80G>A	XP_011510380.1:n.1010+80G>A
XM_011512079.1:c.1010+80G>A	XP_011510381.1:n.1010+80G>A
XM_011512080.1:c.1010+80G>A	XP_011510382.1:n.1010+80G>A
NM_003742.4:c.908+80G>A MANE Select	NP_003733.2:n.908+80G>A
XM_006712817.3:c.950+80G>A	XP_006712880.1:n.950+80G>A
XM_011512077.2:c.1010+80G>A	XP_011510379.1:n.1010+80G>A
XM_011512078.2:c.1010+80G>A	XP_011510380.1:n.1010+80G>A
XM_011512080.2:c.1010+80G>A	XP_011510382.1:n.1010+80G>A
XM_017005165.1:c.1010+80G>A	XP_016860654.1:n.1010+80G>A
XM_017005166.1:c.239+80G>A	XP_016860655.1:n.239+80G>A