Canonical Allele Identifier: CA349127643

Gene: ABCB11

Linked Data

• gnomAD v4: 2-168944906-A-T
• MyVariant Identifiers: chr2:g.169801416A>T (hg19) ; chr2:g.168944906A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944906A>T , CM000664.2:g.168944906A>T	GRCh38
NC_000002.11:g.169801416A>T , CM000664.1:g.169801416A>T	GRCh37
NC_000002.10:g.169509662A>T	NCBI36
NG_007374.1:g.91418T>A
NG_007374.2:g.91491T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.716T>A	ENSP00000497165.1:p.Leu239Gln
ENST00000650372.1:c.2399T>A MANE Select	ENSP00000497931.1:p.Leu800Gln
ENST00000263817.6:c.2399T>A	ENSP00000263817.6:p.Leu800Gln
ENST00000439188.1:c.1088T>A	ENSP00000416058.1:n.1088T>A
NM_003742.2:c.2399T>A	NP_003733.2:p.Leu800Gln
XM_006712817.2:c.2441T>A	XP_006712880.1:p.Leu814Gln
XM_011512077.1:c.2501T>A	XP_011510379.1:p.Leu834Gln
XM_011512078.1:c.2501T>A	XP_011510380.1:p.Leu834Gln
XM_011512079.1:c.2501T>A	XP_011510381.1:p.Leu834Gln
XM_011512080.1:c.2501T>A	XP_011510382.1:p.Leu834Gln
XM_011512081.1:c.725T>A	XP_011510383.1:p.Leu242Gln
NM_003742.4:c.2399T>A MANE Select	NP_003733.2:p.Leu800Gln
XM_006712817.3:c.2441T>A	XP_006712880.1:p.Leu814Gln
XM_011512077.2:c.2501T>A	XP_011510379.1:p.Leu834Gln
XM_011512078.2:c.2501T>A	XP_011510380.1:p.Leu834Gln
XM_011512080.2:c.2501T>A	XP_011510382.1:p.Leu834Gln
XM_011512081.2:c.725T>A	XP_011510383.1:p.Leu242Gln
XM_017005165.1:c.2501T>A	XP_016860654.1:p.Leu834Gln
XM_017005166.1:c.1730T>A	XP_016860655.1:p.Leu577Gln
XM_017005167.1:c.1184T>A	XP_016860656.1:p.Leu395Gln