Canonical Allele Identifier: CA59895308

Gene: ABCB11

Linked Data

• dbSNP Id: rs76133714
• MyVariant Identifiers: chr2:g.169847336C>A (hg19) ; chr2:g.168990826C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168990826C>A , CM000664.2:g.168990826C>A	GRCh38
NC_000002.11:g.169847336C>A , CM000664.1:g.169847336C>A	GRCh37
NC_000002.10:g.169555582C>A	NCBI36
NG_007374.1:g.45498G>T
NG_007374.2:g.45571G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650372.1:c.883G>T MANE Select	ENSP00000497931.1:p.Gly295Cys
ENST00000263817.6:c.883G>T	ENSP00000263817.6:p.Gly295Cys
NM_003742.2:c.883G>T	NP_003733.2:p.Gly295Cys
XM_006712817.2:c.925G>T	XP_006712880.1:p.Gly309Cys
XM_011512077.1:c.985G>T	XP_011510379.1:p.Gly329Cys
XM_011512078.1:c.985G>T	XP_011510380.1:p.Gly329Cys
XM_011512079.1:c.985G>T	XP_011510381.1:p.Gly329Cys
XM_011512080.1:c.985G>T	XP_011510382.1:p.Gly329Cys
NM_003742.4:c.883G>T MANE Select	NP_003733.2:p.Gly295Cys
XM_006712817.3:c.925G>T	XP_006712880.1:p.Gly309Cys
XM_011512077.2:c.985G>T	XP_011510379.1:p.Gly329Cys
XM_011512078.2:c.985G>T	XP_011510380.1:p.Gly329Cys
XM_011512080.2:c.985G>T	XP_011510382.1:p.Gly329Cys
XM_017005165.1:c.985G>T	XP_016860654.1:p.Gly329Cys
XM_017005166.1:c.214G>T	XP_016860655.1:p.Gly72Cys