Canonical Allele Identifier: CA349122461

Gene: ABCB11

Linked Data

• dbSNP Id: rs2105891479
• gnomAD v3: 2-168932453-A-G
• gnomAD v4: 2-168932453-A-G
• MyVariant Identifiers: chr2:g.169788963A>G (hg19) ; chr2:g.168932453A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168932453A>G , CM000664.2:g.168932453A>G	GRCh38
NC_000002.11:g.169788963A>G , CM000664.1:g.169788963A>G	GRCh37
NC_000002.10:g.169497209A>G	NCBI36
NG_007374.1:g.103871T>C
NG_007374.2:g.103944T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.1454T>C	ENSP00000497165.1:p.Ile485Thr
ENST00000650372.1:c.3137T>C MANE Select	ENSP00000497931.1:p.Ile1046Thr
ENST00000263817.6:c.3137T>C	ENSP00000263817.6:p.Ile1046Thr
ENST00000439188.1:c.1826T>C	ENSP00000416058.1:n.1826T>C
NM_003742.2:c.3137T>C	NP_003733.2:p.Ile1046Thr
XM_006712817.2:c.3179T>C	XP_006712880.1:p.Ile1060Thr
XM_011512077.1:c.3239T>C	XP_011510379.1:p.Ile1080Thr
XM_011512078.1:c.3239T>C	XP_011510380.1:p.Ile1080Thr
XM_011512079.1:c.3239T>C	XP_011510381.1:p.Ile1080Thr
XM_011512081.1:c.1463T>C	XP_011510383.1:p.Ile488Thr
NM_003742.4:c.3137T>C MANE Select	NP_003733.2:p.Ile1046Thr
XM_006712817.3:c.3179T>C	XP_006712880.1:p.Ile1060Thr
XM_011512077.2:c.3239T>C	XP_011510379.1:p.Ile1080Thr
XM_011512078.2:c.3239T>C	XP_011510380.1:p.Ile1080Thr
XM_011512081.2:c.1463T>C	XP_011510383.1:p.Ile488Thr
XM_017005165.1:c.3239T>C	XP_016860654.1:p.Ile1080Thr
XM_017005166.1:c.2468T>C	XP_016860655.1:p.Ile823Thr
XM_017005167.1:c.1922T>C	XP_016860656.1:p.Ile641Thr