Canonical Allele Identifier: CA2683609733
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs2130000274
gnomAD v4: 7-87599989-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87599989G>C , CM000669.2:g.87599989G>C GRCh38
NC_000007.13:g.87229305G>C , CM000669.1:g.87229305G>C GRCh37
NC_000007.12:g.87067241G>C NCBI36
NG_011513.1:g.118260C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.68+128C>G ENSP00000265724.3:n.68+128C>G
ENST00000622132.5:c.68+128C>G MANE Select ENSP00000478255.1:n.68+128C>G
ENST00000265724.7:c.68+128C>G ENSP00000265724.3:n.68+128C>G
ENST00000416177.1:c.68+128C>G ENSP00000399419.1:n.68+128C>G
ENST00000543898.5:c.68+128C>G ENSP00000444095.1:n.68+128C>G
ENST00000622132.4:c.68+128C>G ENSP00000478255.1:n.68+128C>G
NM_000927.4:c.68+128C>G NP_000918.2:n.68+128C>G
NM_001348944.1:c.68+128C>G NP_001335873.1:n.68+128C>G
NM_001348945.1:c.278+128C>G NP_001335874.1:n.278+128C>G
NM_001348946.1:c.68+128C>G NP_001335875.1:n.68+128C>G
NM_001348946.2:c.68+128C>G MANE Select NP_001335875.1:n.68+128C>G
NM_000927.5:c.68+128C>G NP_000918.2:n.68+128C>G
NM_001348944.2:c.68+128C>G NP_001335873.1:n.68+128C>G
NM_001348945.2:c.278+128C>G NP_001335874.1:n.278+128C>G