Canonical Allele Identifier: CA349122464

Gene: ABCB11

Linked Data

• ClinVar Variation Id: 2330816
• ClinVar RCV Id: RCV002935146
• MyVariant Identifiers: chr2:g.169788964T>A (hg19) ; chr2:g.168932454T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168932454T>A , CM000664.2:g.168932454T>A	GRCh38
NC_000002.11:g.169788964T>A , CM000664.1:g.169788964T>A	GRCh37
NC_000002.10:g.169497210T>A	NCBI36
NG_007374.1:g.103870A>T
NG_007374.2:g.103943A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.1453A>T	ENSP00000497165.1:p.Ile485Leu
ENST00000650372.1:c.3136A>T MANE Select	ENSP00000497931.1:p.Ile1046Leu
ENST00000263817.6:c.3136A>T	ENSP00000263817.6:p.Ile1046Leu
ENST00000439188.1:c.1825A>T	ENSP00000416058.1:n.1825A>T
NM_003742.2:c.3136A>T	NP_003733.2:p.Ile1046Leu
XM_006712817.2:c.3178A>T	XP_006712880.1:p.Ile1060Leu
XM_011512077.1:c.3238A>T	XP_011510379.1:p.Ile1080Leu
XM_011512078.1:c.3238A>T	XP_011510380.1:p.Ile1080Leu
XM_011512079.1:c.3238A>T	XP_011510381.1:p.Ile1080Leu
XM_011512081.1:c.1462A>T	XP_011510383.1:p.Ile488Leu
NM_003742.4:c.3136A>T MANE Select	NP_003733.2:p.Ile1046Leu
XM_006712817.3:c.3178A>T	XP_006712880.1:p.Ile1060Leu
XM_011512077.2:c.3238A>T	XP_011510379.1:p.Ile1080Leu
XM_011512078.2:c.3238A>T	XP_011510380.1:p.Ile1080Leu
XM_011512081.2:c.1462A>T	XP_011510383.1:p.Ile488Leu
XM_017005165.1:c.3238A>T	XP_016860654.1:p.Ile1080Leu
XM_017005166.1:c.2467A>T	XP_016860655.1:p.Ile823Leu
XM_017005167.1:c.1921A>T	XP_016860656.1:p.Ile641Leu