Canonical Allele Identifier: CA843419148
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs1307343338
gnomAD v3: 7-87520636-T-A
gnomAD v4: 7-87520636-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87520636T>A , CM000669.2:g.87520636T>A GRCh38
NC_000007.13:g.87149952T>A , CM000669.1:g.87149952T>A GRCh37
NC_000007.12:g.86987888T>A NCBI36
NG_011513.1:g.197613A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265724.8:c.2786+140A>T ENSP00000265724.3:n.2786+140A>T
ENST00000622132.5:c.2786+140A>T MANE Select ENSP00000478255.1:n.2786+140A>T
ENST00000265724.7:c.2786+140A>T ENSP00000265724.3:n.2786+140A>T
ENST00000483831.1:n.344+140A>T
ENST00000488737.6:n.428+140A>T
ENST00000496821.5:n.414+140A>T
ENST00000543898.5:c.2594+140A>T ENSP00000444095.1:n.2594+140A>T
ENST00000622132.4:c.2786+140A>T ENSP00000478255.1:n.2786+140A>T
NM_000927.4:c.2786+140A>T NP_000918.2:n.2786+140A>T
NM_001348944.1:c.2786+140A>T NP_001335873.1:n.2786+140A>T
NM_001348945.1:c.2996+140A>T NP_001335874.1:n.2996+140A>T
NM_001348946.1:c.2786+140A>T NP_001335875.1:n.2786+140A>T
NM_001348946.2:c.2786+140A>T MANE Select NP_001335875.1:n.2786+140A>T
NM_000927.5:c.2786+140A>T NP_000918.2:n.2786+140A>T
NM_001348944.2:c.2786+140A>T NP_001335873.1:n.2786+140A>T
NM_001348945.2:c.2996+140A>T NP_001335874.1:n.2996+140A>T