Canonical Allele Identifier: CA349132964

Gene: ABCB11

Linked Data

• dbSNP Id: rs72551309
• gnomAD v4: 2-168996724-T-C
• MyVariant Identifiers: chr2:g.169853234T>C (hg19) ; chr2:g.168996724T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168996724T>C , CM000664.2:g.168996724T>C	GRCh38
NC_000002.11:g.169853234T>C , CM000664.1:g.169853234T>C	GRCh37
NC_000002.10:g.169561480T>C	NCBI36
NG_007374.1:g.39600A>G
NG_007374.2:g.39673A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650372.1:c.390-2A>G MANE Select	ENSP00000497931.1:n.390-2A>G
ENST00000263817.6:c.390-2A>G	ENSP00000263817.6:n.390-2A>G
NM_003742.2:c.390-2A>G	NP_003733.2:n.390-2A>G
XM_006712817.2:c.432-2A>G	XP_006712880.1:n.432-2A>G
XM_011512077.1:c.492-2A>G	XP_011510379.1:n.492-2A>G
XM_011512078.1:c.492-2A>G	XP_011510380.1:n.492-2A>G
XM_011512079.1:c.492-2A>G	XP_011510381.1:n.492-2A>G
XM_011512080.1:c.492-2A>G	XP_011510382.1:n.492-2A>G
NM_003742.4:c.390-2A>G MANE Select	NP_003733.2:n.390-2A>G
XM_006712817.3:c.432-2A>G	XP_006712880.1:n.432-2A>G
XM_011512077.2:c.492-2A>G	XP_011510379.1:n.492-2A>G
XM_011512078.2:c.492-2A>G	XP_011510380.1:n.492-2A>G
XM_011512080.2:c.492-2A>G	XP_011510382.1:n.492-2A>G
XM_017005165.1:c.492-2A>G	XP_016860654.1:n.492-2A>G