Canonical Allele Identifier: CA575861501
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs1487785966
gnomAD v2: 7-87150314-C-T
gnomAD v4: 7-87520998-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87520998C>T , CM000669.2:g.87520998C>T GRCh38
NC_000007.13:g.87150314C>T , CM000669.1:g.87150314C>T GRCh37
NC_000007.12:g.86988250C>T NCBI36
NG_011513.1:g.197251G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2686-122G>A ENSP00000265724.3:n.2686-122G>A
ENST00000622132.5:c.2686-122G>A MANE Select ENSP00000478255.1:n.2686-122G>A
ENST00000265724.7:c.2686-122G>A ENSP00000265724.3:n.2686-122G>A
ENST00000483831.1:n.122G>A
ENST00000488737.6:n.328-122G>A
ENST00000496821.5:n.314-122G>A
ENST00000543898.5:c.2494-122G>A ENSP00000444095.1:n.2494-122G>A
ENST00000622132.4:c.2686-122G>A ENSP00000478255.1:n.2686-122G>A
NM_000927.4:c.2686-122G>A NP_000918.2:n.2686-122G>A
NM_001348944.1:c.2686-122G>A NP_001335873.1:n.2686-122G>A
NM_001348945.1:c.2896-122G>A NP_001335874.1:n.2896-122G>A
NM_001348946.1:c.2686-122G>A NP_001335875.1:n.2686-122G>A
NM_001348946.2:c.2686-122G>A MANE Select NP_001335875.1:n.2686-122G>A
NM_000927.5:c.2686-122G>A NP_000918.2:n.2686-122G>A
NM_001348944.2:c.2686-122G>A NP_001335873.1:n.2686-122G>A
NM_001348945.2:c.2896-122G>A NP_001335874.1:n.2896-122G>A