Canonical Allele Identifier: CA162474328
Gene: ABCB1 HGNC NCBI
dbSNP:
2188524
gnomAD v2:
7:87230435 T / C
gnomAD v3:
7:87601119 T / C
gnomAD v4:
chr7-87601119-T-C
Joint Max Group AF 0.08222536 (EAS)
Genomes Max Group AF 0.08222536 (EAS)
MyVariant.info:
GRCh38 chr7:g.87601119T>C
GRCh37 chr7:g.87230435T>C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87601119T>C , CM000669.2:g.87601119T>C GRCh38
NC_000007.13:g.87230435T>C , CM000669.1:g.87230435T>C GRCh37
NC_000007.12:g.87068371T>C NCBI36
NG_011513.1:g.117130A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.-330-41A>G ENSP00000265724.3:n.-330-41A>G
ENST00000265724.7:c.-330-41A>G ENSP00000265724.3:n.-330-41A>G
ENST00000416177.1:c.-183-41A>G ENSP00000399419.1:n.-183-41A>G
ENST00000476862.1:n.317-41A>G
ENST00000543898.5:c.-330-41A>G ENSP00000444095.1:n.-330-41A>G
NM_000927.4:c.-330-41A>G NP_000918.2:n.-330-41A>G
NM_001348944.1:c.-183-41A>G NP_001335873.1:n.-183-41A>G
NM_001348945.1:c.28-41A>G NP_001335874.1:n.28-41A>G
NM_000927.5:c.-330-41A>G NP_000918.2:n.-330-41A>G
NM_001348944.2:c.-183-41A>G NP_001335873.1:n.-183-41A>G
NM_001348945.2:c.28-41A>G NP_001335874.1:n.28-41A>G
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