Canonical Allele Identifier: CA1951881

Gene: ABCB11

Linked Data

• ClinVar Variation Id: 2738462
• ClinVar RCV Id: RCV003562637
• dbSNP Id: rs770407783
• ExAC: 2:169853130 G / A
• gnomAD v2: 2-169853130-G-A
• gnomAD v3: 2-168996620-G-A
• gnomAD v4: 2-168996620-G-A
• MyVariant Identifiers: chr2:g.169853130G>A (hg19) ; chr2:g.168996620G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168996620G>A , CM000664.2:g.168996620G>A	GRCh38
NC_000002.11:g.169853130G>A , CM000664.1:g.169853130G>A	GRCh37
NC_000002.10:g.169561376G>A	NCBI36
NG_007374.1:g.39704C>T
NG_007374.2:g.39777C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650372.1:c.477+15C>T MANE Select	ENSP00000497931.1:n.477+15C>T
ENST00000263817.6:c.477+15C>T	ENSP00000263817.6:n.477+15C>T
NM_003742.2:c.477+15C>T	NP_003733.2:n.477+15C>T
XM_006712817.2:c.519+15C>T	XP_006712880.1:n.519+15C>T
XM_011512077.1:c.579+15C>T	XP_011510379.1:n.579+15C>T
XM_011512078.1:c.579+15C>T	XP_011510380.1:n.579+15C>T
XM_011512079.1:c.579+15C>T	XP_011510381.1:n.579+15C>T
XM_011512080.1:c.579+15C>T	XP_011510382.1:n.579+15C>T
NM_003742.4:c.477+15C>T MANE Select	NP_003733.2:n.477+15C>T
XM_006712817.3:c.519+15C>T	XP_006712880.1:n.519+15C>T
XM_011512077.2:c.579+15C>T	XP_011510379.1:n.579+15C>T
XM_011512078.2:c.579+15C>T	XP_011510380.1:n.579+15C>T
XM_011512080.2:c.579+15C>T	XP_011510382.1:n.579+15C>T
XM_017005165.1:c.579+15C>T	XP_016860654.1:n.579+15C>T