Canonical Allele Identifier: CA12474672
Gene: ABCB1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.87519012C>T
GRCh37 chr7:g.87148328C>T
gnomAD v2:
7:87148328 C / T
gnomAD v3:
7:87519012 C / T
gnomAD v4:
chr7-87519012-C-T
Joint Max Group AF 0.18644753 (AFR)
Genomes Max Group AF 0.18629993 (AFR)
Exomes Max Group AF 0.18096711 (AFR)
dbSNP:
28401781
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87519012C>T , CM000669.2:g.87519012C>T GRCh38
NC_000007.13:g.87148328C>T , CM000669.1:g.87148328C>T GRCh37
NC_000007.12:g.86986264C>T NCBI36
NG_011513.1:g.199237G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2927+314G>A ENSP00000265724.3:n.2927+314G>A
ENST00000622132.5:c.2927+314G>A MANE Select ENSP00000478255.1:n.2927+314G>A
ENST00000265724.7:c.2927+314G>A ENSP00000265724.3:n.2927+314G>A
ENST00000483831.1:n.485+314G>A
ENST00000488737.6:n.569+314G>A
ENST00000496821.5:n.555+314G>A
ENST00000543898.5:c.2735+314G>A ENSP00000444095.1:n.2735+314G>A
ENST00000622132.4:c.2927+314G>A ENSP00000478255.1:n.2927+314G>A
NM_000927.4:c.2927+314G>A NP_000918.2:n.2927+314G>A
NM_001348944.1:c.2927+314G>A NP_001335873.1:n.2927+314G>A
NM_001348945.1:c.3137+314G>A NP_001335874.1:n.3137+314G>A
NM_001348946.1:c.2927+314G>A NP_001335875.1:n.2927+314G>A
NM_001348946.2:c.2927+314G>A MANE Select NP_001335875.1:n.2927+314G>A
NM_000927.5:c.2927+314G>A NP_000918.2:n.2927+314G>A
NM_001348944.2:c.2927+314G>A NP_001335873.1:n.2927+314G>A
NM_001348945.2:c.3137+314G>A NP_001335874.1:n.3137+314G>A
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