Canonical Allele Identifier: CA4328390

Gene: ABCB1

Linked Data

• ClinVar Variation Id: 828669
• ClinVar RCV Id: RCV001028579
• dbSNP Id: rs199578136
• ExAC: 7:87179887 C / T
• gnomAD v2: 7-87179887-C-T
• gnomAD v4: 7-87550571-C-T
• MyVariant Identifiers: chr7:g.87179887C>T (hg19) ; chr7:g.87550571C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87550571C>T , CM000669.2:g.87550571C>T	GRCh38
NC_000007.13:g.87179887C>T , CM000669.1:g.87179887C>T	GRCh37
NC_000007.12:g.87017823C>T	NCBI36
NG_011513.1:g.167678G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.1121G>A	ENSP00000265724.3:p.Ser374Asn
ENST00000622132.5:c.1121G>A MANE Select	ENSP00000478255.1:p.Ser374Asn
ENST00000265724.7:c.1121G>A	ENSP00000265724.3:p.Ser374Asn
ENST00000543898.5:c.929G>A	ENSP00000444095.1:p.Ser310Asn
ENST00000622132.4:c.1121G>A	ENSP00000478255.1:p.Ser374Asn
NM_000927.4:c.1121G>A	NP_000918.2:p.Ser374Asn
NM_001348944.1:c.1121G>A	NP_001335873.1:p.Ser374Asn
NM_001348945.1:c.1331G>A	NP_001335874.1:p.Ser444Asn
NM_001348946.1:c.1121G>A	NP_001335875.1:p.Ser374Asn
NM_001348946.2:c.1121G>A MANE Select	NP_001335875.1:p.Ser374Asn
NM_000927.5:c.1121G>A	NP_000918.2:p.Ser374Asn
NM_001348944.2:c.1121G>A	NP_001335873.1:p.Ser374Asn
NM_001348945.2:c.1331G>A	NP_001335874.1:p.Ser444Asn