Canonical Allele Identifier: CA162110438
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs568000999
gnomAD v2: 7-87160138-C-A
gnomAD v3: 7-87530822-C-A
gnomAD v4: 7-87530822-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87530822C>A , CM000669.2:g.87530822C>A GRCh38
NC_000007.13:g.87160138C>A , CM000669.1:g.87160138C>A GRCh37
NC_000007.12:g.86998074C>A NCBI36
NG_011513.1:g.187427G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2685+472G>T ENSP00000265724.3:n.2685+472G>T
ENST00000622132.5:c.2685+472G>T MANE Select ENSP00000478255.1:n.2685+472G>T
ENST00000265724.7:c.2685+472G>T ENSP00000265724.3:n.2685+472G>T
ENST00000488737.6:n.327+472G>T
ENST00000496821.5:n.313+472G>T
ENST00000543898.5:c.2493+472G>T ENSP00000444095.1:n.2493+472G>T
ENST00000622132.4:c.2685+472G>T ENSP00000478255.1:n.2685+472G>T
NM_000927.4:c.2685+472G>T NP_000918.2:n.2685+472G>T
NM_001348944.1:c.2685+472G>T NP_001335873.1:n.2685+472G>T
NM_001348945.1:c.2895+472G>T NP_001335874.1:n.2895+472G>T
NM_001348946.1:c.2685+472G>T NP_001335875.1:n.2685+472G>T
NM_001348946.2:c.2685+472G>T MANE Select NP_001335875.1:n.2685+472G>T
NM_000927.5:c.2685+472G>T NP_000918.2:n.2685+472G>T
NM_001348944.2:c.2685+472G>T NP_001335873.1:n.2685+472G>T
NM_001348945.2:c.2895+472G>T NP_001335874.1:n.2895+472G>T