Canonical Allele Identifier: CA349128023

Gene: ABCB11

Linked Data

• dbSNP Id: rs1250716432
• gnomAD v2: 2-169801456-C-A
• gnomAD v3: 2-168944946-C-A
• gnomAD v4: 2-168944946-C-A
• MyVariant Identifiers: chr2:g.169801456C>A (hg19) ; chr2:g.168944946C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944946C>A , CM000664.2:g.168944946C>A	GRCh38
NC_000002.11:g.169801456C>A , CM000664.1:g.169801456C>A	GRCh37
NC_000002.10:g.169509702C>A	NCBI36
NG_007374.1:g.91378G>T
NG_007374.2:g.91451G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.676G>T	ENSP00000497165.1:p.Asp226Tyr
ENST00000650372.1:c.2359G>T MANE Select	ENSP00000497931.1:p.Asp787Tyr
ENST00000263817.6:c.2359G>T	ENSP00000263817.6:p.Asp787Tyr
ENST00000439188.1:c.1048G>T	ENSP00000416058.1:n.1048G>T
NM_003742.2:c.2359G>T	NP_003733.2:p.Asp787Tyr
XM_006712817.2:c.2401G>T	XP_006712880.1:p.Asp801Tyr
XM_011512077.1:c.2461G>T	XP_011510379.1:p.Asp821Tyr
XM_011512078.1:c.2461G>T	XP_011510380.1:p.Asp821Tyr
XM_011512079.1:c.2461G>T	XP_011510381.1:p.Asp821Tyr
XM_011512080.1:c.2461G>T	XP_011510382.1:p.Asp821Tyr
XM_011512081.1:c.685G>T	XP_011510383.1:p.Asp229Tyr
NM_003742.4:c.2359G>T MANE Select	NP_003733.2:p.Asp787Tyr
XM_006712817.3:c.2401G>T	XP_006712880.1:p.Asp801Tyr
XM_011512077.2:c.2461G>T	XP_011510379.1:p.Asp821Tyr
XM_011512078.2:c.2461G>T	XP_011510380.1:p.Asp821Tyr
XM_011512080.2:c.2461G>T	XP_011510382.1:p.Asp821Tyr
XM_011512081.2:c.685G>T	XP_011510383.1:p.Asp229Tyr
XM_017005165.1:c.2461G>T	XP_016860654.1:p.Asp821Tyr
XM_017005166.1:c.1690G>T	XP_016860655.1:p.Asp564Tyr
XM_017005167.1:c.1144G>T	XP_016860656.1:p.Asp382Tyr