Canonical Allele Identifier: CA4328556

Gene: ABCB1

Linked Data

• ClinVar Variation Id: 708203
• ClinVar RCV Id: RCV000879421
• dbSNP Id: rs60419673
• ExAC: 7:87195540 T / C
• gnomAD v2: 7-87195540-T-C
• gnomAD v3: 7-87566224-T-C
• gnomAD v4: 7-87566224-T-C
• COSMIC: COSM1137754
• MyVariant Identifiers: chr7:g.87195540T>C (hg19) ; chr7:g.87566224T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87566224T>C , CM000669.2:g.87566224T>C	GRCh38
NC_000007.13:g.87195540T>C , CM000669.1:g.87195540T>C	GRCh37
NC_000007.12:g.87033476T>C	NCBI36
NG_011513.1:g.152025A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265724.8:c.548A>G	ENSP00000265724.3:p.Asn183Ser
ENST00000622132.5:c.548A>G MANE Select	ENSP00000478255.1:p.Asn183Ser
ENST00000265724.7:c.548A>G	ENSP00000265724.3:p.Asn183Ser
ENST00000543898.5:c.356A>G	ENSP00000444095.1:p.Asn119Ser
ENST00000622132.4:c.548A>G	ENSP00000478255.1:p.Asn183Ser
NM_000927.4:c.548A>G	NP_000918.2:p.Asn183Ser
NM_001348944.1:c.548A>G	NP_001335873.1:p.Asn183Ser
NM_001348945.1:c.758A>G	NP_001335874.1:p.Asn253Ser
NM_001348946.1:c.548A>G	NP_001335875.1:p.Asn183Ser
NM_001348946.2:c.548A>G MANE Select	NP_001335875.1:p.Asn183Ser
NM_000927.5:c.548A>G	NP_000918.2:p.Asn183Ser
NM_001348944.2:c.548A>G	NP_001335873.1:p.Asn183Ser
NM_001348945.2:c.758A>G	NP_001335874.1:p.Asn253Ser