Canonical Allele Identifier: CA575861449
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs1276571885
gnomAD v2: 7-87149963-C-T
gnomAD v3: 7-87520647-C-T
gnomAD v4: 7-87520647-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87520647C>T , CM000669.2:g.87520647C>T GRCh38
NC_000007.13:g.87149963C>T , CM000669.1:g.87149963C>T GRCh37
NC_000007.12:g.86987899C>T NCBI36
NG_011513.1:g.197602G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265724.8:c.2786+129G>A ENSP00000265724.3:n.2786+129G>A
ENST00000622132.5:c.2786+129G>A MANE Select ENSP00000478255.1:n.2786+129G>A
ENST00000265724.7:c.2786+129G>A ENSP00000265724.3:n.2786+129G>A
ENST00000483831.1:n.344+129G>A
ENST00000488737.6:n.428+129G>A
ENST00000496821.5:n.414+129G>A
ENST00000543898.5:c.2594+129G>A ENSP00000444095.1:n.2594+129G>A
ENST00000622132.4:c.2786+129G>A ENSP00000478255.1:n.2786+129G>A
NM_000927.4:c.2786+129G>A NP_000918.2:n.2786+129G>A
NM_001348944.1:c.2786+129G>A NP_001335873.1:n.2786+129G>A
NM_001348945.1:c.2996+129G>A NP_001335874.1:n.2996+129G>A
NM_001348946.1:c.2786+129G>A NP_001335875.1:n.2786+129G>A
NM_001348946.2:c.2786+129G>A MANE Select NP_001335875.1:n.2786+129G>A
NM_000927.5:c.2786+129G>A NP_000918.2:n.2786+129G>A
NM_001348944.2:c.2786+129G>A NP_001335873.1:n.2786+129G>A
NM_001348945.2:c.2996+129G>A NP_001335874.1:n.2996+129G>A