Canonical Allele Identifier: CA575862148

Gene: ABCB1

Linked Data

• dbSNP Id: rs1478781935
• gnomAD v2: 7-87165011-T-C
• gnomAD v3: 7-87535695-T-C
• gnomAD v4: 7-87535695-T-C
• MyVariant Identifiers: chr7:g.87165011T>C (hg19) ; chr7:g.87535695T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87535695T>C , CM000669.2:g.87535695T>C	GRCh38
NC_000007.13:g.87165011T>C , CM000669.1:g.87165011T>C	GRCh37
NC_000007.12:g.87002947T>C	NCBI36
NG_011513.1:g.182554A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2481+763A>G	ENSP00000265724.3:n.2481+763A>G
ENST00000622132.5:c.2481+763A>G MANE Select	ENSP00000478255.1:n.2481+763A>G
ENST00000265724.7:c.2481+763A>G	ENSP00000265724.3:n.2481+763A>G
ENST00000496821.5:n.109+763A>G
ENST00000543898.5:c.2289+763A>G	ENSP00000444095.1:n.2289+763A>G
ENST00000622132.4:c.2481+763A>G	ENSP00000478255.1:n.2481+763A>G
NM_000927.4:c.2481+763A>G	NP_000918.2:n.2481+763A>G
NM_001348944.1:c.2481+763A>G	NP_001335873.1:n.2481+763A>G
NM_001348945.1:c.2691+763A>G	NP_001335874.1:n.2691+763A>G
NM_001348946.1:c.2481+763A>G	NP_001335875.1:n.2481+763A>G
NM_001348946.2:c.2481+763A>G MANE Select	NP_001335875.1:n.2481+763A>G
NM_000927.5:c.2481+763A>G	NP_000918.2:n.2481+763A>G
NM_001348944.2:c.2481+763A>G	NP_001335873.1:n.2481+763A>G
NM_001348945.2:c.2691+763A>G	NP_001335874.1:n.2691+763A>G