Canonical Allele Identifier: CA4327880

Gene: ABCB1

Linked Data

• dbSNP Id: rs142183184
• ExAC: 7:87145841 G / A
• gnomAD v2: 7-87145841-G-A
• gnomAD v4: 7-87516525-G-A
• MyVariant Identifiers: chr7:g.87145841G>A (hg19) ; chr7:g.87516525G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87516525G>A , CM000669.2:g.87516525G>A	GRCh38
NC_000007.13:g.87145841G>A , CM000669.1:g.87145841G>A	GRCh37
NC_000007.12:g.86983777G>A	NCBI36
NG_011513.1:g.201724C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.3068C>T	ENSP00000265724.3:p.Thr1023Met
ENST00000622132.5:c.3068C>T MANE Select	ENSP00000478255.1:p.Thr1023Met
ENST00000265724.7:c.3068C>T	ENSP00000265724.3:p.Thr1023Met
ENST00000475929.5:n.224C>T
ENST00000483831.1:n.626C>T
ENST00000488737.6:n.710C>T
ENST00000496821.5:n.696C>T
ENST00000543898.5:c.2876C>T	ENSP00000444095.1:p.Thr959Met
ENST00000622132.4:c.3068C>T	ENSP00000478255.1:p.Thr1023Met
NM_000927.4:c.3068C>T	NP_000918.2:p.Thr1023Met
NM_001348944.1:c.3068C>T	NP_001335873.1:p.Thr1023Met
NM_001348945.1:c.3278C>T	NP_001335874.1:p.Thr1093Met
NM_001348946.1:c.3068C>T	NP_001335875.1:p.Thr1023Met
NM_001348946.2:c.3068C>T MANE Select	NP_001335875.1:p.Thr1023Met
NM_000927.5:c.3068C>T	NP_000918.2:p.Thr1023Met
NM_001348944.2:c.3068C>T	NP_001335873.1:p.Thr1023Met
NM_001348945.2:c.3278C>T	NP_001335874.1:p.Thr1093Met