Canonical Allele Identifier: CA2683606161
Gene: ABCB1 HGNC NCBI

Linked Data

gnomAD v4: 7-87536420-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87536420C>A , CM000669.2:g.87536420C>A GRCh38
NC_000007.13:g.87165736C>A , CM000669.1:g.87165736C>A GRCh37
NC_000007.12:g.87003672C>A NCBI36
NG_011513.1:g.181829G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2481+38G>T ENSP00000265724.3:n.2481+38G>T
ENST00000622132.5:c.2481+38G>T MANE Select ENSP00000478255.1:n.2481+38G>T
ENST00000265724.7:c.2481+38G>T ENSP00000265724.3:n.2481+38G>T
ENST00000496821.5:n.109+38G>T
ENST00000543898.5:c.2289+38G>T ENSP00000444095.1:n.2289+38G>T
ENST00000622132.4:c.2481+38G>T ENSP00000478255.1:n.2481+38G>T
NM_000927.4:c.2481+38G>T NP_000918.2:n.2481+38G>T
NM_001348944.1:c.2481+38G>T NP_001335873.1:n.2481+38G>T
NM_001348945.1:c.2691+38G>T NP_001335874.1:n.2691+38G>T
NM_001348946.1:c.2481+38G>T NP_001335875.1:n.2481+38G>T
NM_001348946.2:c.2481+38G>T MANE Select NP_001335875.1:n.2481+38G>T
NM_000927.5:c.2481+38G>T NP_000918.2:n.2481+38G>T
NM_001348944.2:c.2481+38G>T NP_001335873.1:n.2481+38G>T
NM_001348945.2:c.2691+38G>T NP_001335874.1:n.2691+38G>T