Canonical Allele Identifier: CA349127518

Gene: ABCB11

Linked Data

• dbSNP Id: rs1692230993
• gnomAD v4: 2-168944888-C-T
• MyVariant Identifiers: chr2:g.169801398C>T (hg19) ; chr2:g.168944888C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944888C>T , CM000664.2:g.168944888C>T	GRCh38
NC_000002.11:g.169801398C>T , CM000664.1:g.169801398C>T	GRCh37
NC_000002.10:g.169509644C>T	NCBI36
NG_007374.1:g.91436G>A
NG_007374.2:g.91509G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.734G>A	ENSP00000497165.1:p.Gly245Asp
ENST00000650372.1:c.2417G>A MANE Select	ENSP00000497931.1:p.Gly806Asp
ENST00000263817.6:c.2417G>A	ENSP00000263817.6:p.Gly806Asp
ENST00000439188.1:c.1106G>A	ENSP00000416058.1:n.1106G>A
NM_003742.2:c.2417G>A	NP_003733.2:p.Gly806Asp
XM_006712817.2:c.2459G>A	XP_006712880.1:p.Gly820Asp
XM_011512077.1:c.2519G>A	XP_011510379.1:p.Gly840Asp
XM_011512078.1:c.2519G>A	XP_011510380.1:p.Gly840Asp
XM_011512079.1:c.2519G>A	XP_011510381.1:p.Gly840Asp
XM_011512080.1:c.2519G>A	XP_011510382.1:p.Gly840Asp
XM_011512081.1:c.743G>A	XP_011510383.1:p.Gly248Asp
NM_003742.4:c.2417G>A MANE Select	NP_003733.2:p.Gly806Asp
XM_006712817.3:c.2459G>A	XP_006712880.1:p.Gly820Asp
XM_011512077.2:c.2519G>A	XP_011510379.1:p.Gly840Asp
XM_011512078.2:c.2519G>A	XP_011510380.1:p.Gly840Asp
XM_011512080.2:c.2519G>A	XP_011510382.1:p.Gly840Asp
XM_011512081.2:c.743G>A	XP_011510383.1:p.Gly248Asp
XM_017005165.1:c.2519G>A	XP_016860654.1:p.Gly840Asp
XM_017005166.1:c.1748G>A	XP_016860655.1:p.Gly583Asp
XM_017005167.1:c.1202G>A	XP_016860656.1:p.Gly401Asp