Canonical Allele Identifier: CA349122454

Gene: ABCB11

Linked Data

• dbSNP Id: rs1308990340
• gnomAD v2: 2-169788960-G-A
• MyVariant Identifiers: chr2:g.169788960G>A (hg19) ; chr2:g.168932450G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168932450G>A , CM000664.2:g.168932450G>A	GRCh38
NC_000002.11:g.169788960G>A , CM000664.1:g.169788960G>A	GRCh37
NC_000002.10:g.169497206G>A	NCBI36
NG_007374.1:g.103874C>T
NG_007374.2:g.103947C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.1457C>T	ENSP00000497165.1:p.Ser486Leu
ENST00000650372.1:c.3140C>T MANE Select	ENSP00000497931.1:p.Ser1047Leu
ENST00000263817.6:c.3140C>T	ENSP00000263817.6:p.Ser1047Leu
ENST00000439188.1:c.1829C>T	ENSP00000416058.1:n.1829C>T
NM_003742.2:c.3140C>T	NP_003733.2:p.Ser1047Leu
XM_006712817.2:c.3182C>T	XP_006712880.1:p.Ser1061Leu
XM_011512077.1:c.3242C>T	XP_011510379.1:p.Ser1081Leu
XM_011512078.1:c.3242C>T	XP_011510380.1:p.Ser1081Leu
XM_011512079.1:c.3242C>T	XP_011510381.1:p.Ser1081Leu
XM_011512081.1:c.1466C>T	XP_011510383.1:p.Ser489Leu
NM_003742.4:c.3140C>T MANE Select	NP_003733.2:p.Ser1047Leu
XM_006712817.3:c.3182C>T	XP_006712880.1:p.Ser1061Leu
XM_011512077.2:c.3242C>T	XP_011510379.1:p.Ser1081Leu
XM_011512078.2:c.3242C>T	XP_011510380.1:p.Ser1081Leu
XM_011512081.2:c.1466C>T	XP_011510383.1:p.Ser489Leu
XM_017005165.1:c.3242C>T	XP_016860654.1:p.Ser1081Leu
XM_017005166.1:c.2471C>T	XP_016860655.1:p.Ser824Leu
XM_017005167.1:c.1925C>T	XP_016860656.1:p.Ser642Leu