Canonical Allele Identifier: CA4327874

Gene: ABCB1

Linked Data

• dbSNP Id: rs2235044
• ExAC: 7:87145825 C / T
• gnomAD v2: 7-87145825-C-T
• gnomAD v3: 7-87516509-C-T
• gnomAD v4: 7-87516509-C-T
• MyVariant Identifiers: chr7:g.87145825C>T (hg19) ; chr7:g.87516509C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87516509C>T , CM000669.2:g.87516509C>T	GRCh38
NC_000007.13:g.87145825C>T , CM000669.1:g.87145825C>T	GRCh37
NC_000007.12:g.86983761C>T	NCBI36
NG_011513.1:g.201740G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265724.8:c.3084G>A	ENSP00000265724.3:p.Pro1028=
ENST00000622132.5:c.3084G>A MANE Select	ENSP00000478255.1:p.Pro1028=
ENST00000265724.7:c.3084G>A	ENSP00000265724.3:p.Pro1028=
ENST00000475929.5:n.240G>A
ENST00000483831.1:n.642G>A
ENST00000488737.6:n.726G>A
ENST00000496821.5:n.712G>A
ENST00000543898.5:c.2892G>A	ENSP00000444095.1:p.Pro964=
ENST00000622132.4:c.3084G>A	ENSP00000478255.1:p.Pro1028=
NM_000927.4:c.3084G>A	NP_000918.2:p.Pro1028=
NM_001348944.1:c.3084G>A	NP_001335873.1:p.Pro1028=
NM_001348945.1:c.3294G>A	NP_001335874.1:p.Pro1098=
NM_001348946.1:c.3084G>A	NP_001335875.1:p.Pro1028=
NM_001348946.2:c.3084G>A MANE Select	NP_001335875.1:p.Pro1028=
NM_000927.5:c.3084G>A	NP_000918.2:p.Pro1028=
NM_001348944.2:c.3084G>A	NP_001335873.1:p.Pro1028=
NM_001348945.2:c.3294G>A	NP_001335874.1:p.Pro1098=