Canonical Allele Identifier: CA760461760

Gene: ABCB11

Linked Data

• dbSNP Id: rs1478029415
• gnomAD v3: 2-168922935-T-C
• gnomAD v4: 2-168922935-T-C
• MyVariant Identifiers: chr2:g.169779445T>C (hg19) ; chr2:g.168922935T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168922935T>C , CM000664.2:g.168922935T>C	GRCh38
NC_000002.11:g.169779445T>C , CM000664.1:g.169779445T>C	GRCh37
NC_000002.10:g.169487691T>C	NCBI36
NG_007374.1:g.113389A>G
NG_007374.2:g.113462A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648875.1:c.226+1722A>G
ENST00000650372.1:c.*687A>G MANE Select	ENSP00000497931.1:n.*687A>G
XM_006712817.2:c.*687A>G	XP_006712880.1:n.*687A>G
XM_011512077.1:c.*687A>G	XP_011510379.1:n.*687A>G
XM_011512078.1:c.*641A>G	XP_011510380.1:n.*641A>G
XM_011512079.1:c.*687A>G	XP_011510381.1:n.*687A>G
XM_011512081.1:c.*687A>G	XP_011510383.1:n.*687A>G
NM_003742.4:c.*687A>G MANE Select	NP_003733.2:n.*687A>G
XM_006712817.3:c.*687A>G	XP_006712880.1:n.*687A>G
XM_011512077.2:c.*687A>G	XP_011510379.1:n.*687A>G
XM_011512078.2:c.*641A>G	XP_011510380.1:n.*641A>G
XM_011512081.2:c.*687A>G	XP_011510383.1:n.*687A>G
XM_017005165.1:c.3867+1722A>G	XP_016860654.1:n.3867+1722A>G
XM_017005166.1:c.*687A>G	XP_016860655.1:n.*687A>G
XM_017005167.1:c.*687A>G	XP_016860656.1:n.*687A>G