Canonical Allele Identifier: CA349122460

Gene: ABCB11

Linked Data

• gnomAD v4: 2-168932452-T-C
• MyVariant Identifiers: chr2:g.169788962T>C (hg19) ; chr2:g.168932452T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168932452T>C , CM000664.2:g.168932452T>C	GRCh38
NC_000002.11:g.169788962T>C , CM000664.1:g.169788962T>C	GRCh37
NC_000002.10:g.169497208T>C	NCBI36
NG_007374.1:g.103872A>G
NG_007374.2:g.103945A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.1455A>G	ENSP00000497165.1:p.Ile485Met
ENST00000650372.1:c.3138A>G MANE Select	ENSP00000497931.1:p.Ile1046Met
ENST00000263817.6:c.3138A>G	ENSP00000263817.6:p.Ile1046Met
ENST00000439188.1:c.1827A>G	ENSP00000416058.1:n.1827A>G
NM_003742.2:c.3138A>G	NP_003733.2:p.Ile1046Met
XM_006712817.2:c.3180A>G	XP_006712880.1:p.Ile1060Met
XM_011512077.1:c.3240A>G	XP_011510379.1:p.Ile1080Met
XM_011512078.1:c.3240A>G	XP_011510380.1:p.Ile1080Met
XM_011512079.1:c.3240A>G	XP_011510381.1:p.Ile1080Met
XM_011512081.1:c.1464A>G	XP_011510383.1:p.Ile488Met
NM_003742.4:c.3138A>G MANE Select	NP_003733.2:p.Ile1046Met
XM_006712817.3:c.3180A>G	XP_006712880.1:p.Ile1060Met
XM_011512077.2:c.3240A>G	XP_011510379.1:p.Ile1080Met
XM_011512078.2:c.3240A>G	XP_011510380.1:p.Ile1080Met
XM_011512081.2:c.1464A>G	XP_011510383.1:p.Ile488Met
XM_017005165.1:c.3240A>G	XP_016860654.1:p.Ile1080Met
XM_017005166.1:c.2469A>G	XP_016860655.1:p.Ile823Met
XM_017005167.1:c.1923A>G	XP_016860656.1:p.Ile641Met