Canonical Allele Identifier: CA349126084

Gene: ABCB11

Linked Data

• COSMIC: COSM3961510 ; COSM3961511
• MyVariant Identifiers: chr2:g.169801135C>A (hg19) ; chr2:g.168944625C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944625C>A , CM000664.2:g.168944625C>A	GRCh38
NC_000002.11:g.169801135C>A , CM000664.1:g.169801135C>A	GRCh37
NC_000002.10:g.169509381C>A	NCBI36
NG_007374.1:g.91699G>T
NG_007374.2:g.91772G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000649448.1:c.907G>T	ENSP00000497165.1:p.Asp303Tyr
ENST00000650372.1:c.2590G>T MANE Select	ENSP00000497931.1:p.Asp864Tyr
ENST00000263817.6:c.2590G>T	ENSP00000263817.6:p.Asp864Tyr
ENST00000439188.1:c.1279G>T	ENSP00000416058.1:n.1279G>T
NM_003742.2:c.2590G>T	NP_003733.2:p.Asp864Tyr
XM_006712817.2:c.2632G>T	XP_006712880.1:p.Asp878Tyr
XM_011512077.1:c.2692G>T	XP_011510379.1:p.Asp898Tyr
XM_011512078.1:c.2692G>T	XP_011510380.1:p.Asp898Tyr
XM_011512079.1:c.2692G>T	XP_011510381.1:p.Asp898Tyr
XM_011512080.1:c.2692G>T	XP_011510382.1:p.Asp898Tyr
XM_011512081.1:c.916G>T	XP_011510383.1:p.Asp306Tyr
NM_003742.4:c.2590G>T MANE Select	NP_003733.2:p.Asp864Tyr
XM_006712817.3:c.2632G>T	XP_006712880.1:p.Asp878Tyr
XM_011512077.2:c.2692G>T	XP_011510379.1:p.Asp898Tyr
XM_011512078.2:c.2692G>T	XP_011510380.1:p.Asp898Tyr
XM_011512080.2:c.2692G>T	XP_011510382.1:p.Asp898Tyr
XM_011512081.2:c.916G>T	XP_011510383.1:p.Asp306Tyr
XM_017005165.1:c.2692G>T	XP_016860654.1:p.Asp898Tyr
XM_017005166.1:c.1921G>T	XP_016860655.1:p.Asp641Tyr
XM_017005167.1:c.1375G>T	XP_016860656.1:p.Asp459Tyr