Canonical Allele Identifier: CA349132767

Gene: ABCB11

Linked Data

• MyVariant Identifiers: chr2:g.169853205G>C (hg19) ; chr2:g.168996695G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168996695G>C , CM000664.2:g.168996695G>C	GRCh38
NC_000002.11:g.169853205G>C , CM000664.1:g.169853205G>C	GRCh37
NC_000002.10:g.169561451G>C	NCBI36
NG_007374.1:g.39629C>G
NG_007374.2:g.39702C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650372.1:c.417C>G MANE Select	ENSP00000497931.1:p.Ile139Met
ENST00000263817.6:c.417C>G	ENSP00000263817.6:p.Ile139Met
NM_003742.2:c.417C>G	NP_003733.2:p.Ile139Met
XM_006712817.2:c.459C>G	XP_006712880.1:p.Ile153Met
XM_011512077.1:c.519C>G	XP_011510379.1:p.Ile173Met
XM_011512078.1:c.519C>G	XP_011510380.1:p.Ile173Met
XM_011512079.1:c.519C>G	XP_011510381.1:p.Ile173Met
XM_011512080.1:c.519C>G	XP_011510382.1:p.Ile173Met
NM_003742.4:c.417C>G MANE Select	NP_003733.2:p.Ile139Met
XM_006712817.3:c.459C>G	XP_006712880.1:p.Ile153Met
XM_011512077.2:c.519C>G	XP_011510379.1:p.Ile173Met
XM_011512078.2:c.519C>G	XP_011510380.1:p.Ile173Met
XM_011512080.2:c.519C>G	XP_011510382.1:p.Ile173Met
XM_017005165.1:c.519C>G	XP_016860654.1:p.Ile173Met