Canonical Allele Identifier: CA59867409

Gene: ABCB11

Linked Data

• dbSNP Id: rs922155677
• gnomAD v3: 2-168922931-G-A
• gnomAD v4: 2-168922931-G-A
• MyVariant Identifiers: chr2:g.169779441G>A (hg19) ; chr2:g.168922931G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168922931G>A , CM000664.2:g.168922931G>A	GRCh38
NC_000002.11:g.169779441G>A , CM000664.1:g.169779441G>A	GRCh37
NC_000002.10:g.169487687G>A	NCBI36
NG_007374.1:g.113393C>T
NG_007374.2:g.113466C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648875.1:c.226+1726C>T
ENST00000650372.1:c.*691C>T MANE Select	ENSP00000497931.1:n.*691C>T
XM_006712817.2:c.*691C>T	XP_006712880.1:n.*691C>T
XM_011512077.1:c.*691C>T	XP_011510379.1:n.*691C>T
XM_011512078.1:c.*645C>T	XP_011510380.1:n.*645C>T
XM_011512079.1:c.*691C>T	XP_011510381.1:n.*691C>T
XM_011512081.1:c.*691C>T	XP_011510383.1:n.*691C>T
NM_003742.4:c.*691C>T MANE Select	NP_003733.2:n.*691C>T
XM_006712817.3:c.*691C>T	XP_006712880.1:n.*691C>T
XM_011512077.2:c.*691C>T	XP_011510379.1:n.*691C>T
XM_011512078.2:c.*645C>T	XP_011510380.1:n.*645C>T
XM_011512081.2:c.*691C>T	XP_011510383.1:n.*691C>T
XM_017005165.1:c.3867+1726C>T	XP_016860654.1:n.3867+1726C>T
XM_017005166.1:c.*691C>T	XP_016860655.1:n.*691C>T
XM_017005167.1:c.*691C>T	XP_016860656.1:n.*691C>T