Canonical Allele Identifier: CA4328171

Gene: ABCB1

Linked Data

• dbSNP Id: rs199581289
• ExAC: 7:87174292 T / C
• gnomAD v2: 7-87174292-T-C
• gnomAD v3: 7-87544976-T-C
• gnomAD v4: 7-87544976-T-C
• MyVariant Identifiers: chr7:g.87174292T>C (hg19) ; chr7:g.87544976T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87544976T>C , CM000669.2:g.87544976T>C	GRCh38
NC_000007.13:g.87174292T>C , CM000669.1:g.87174292T>C	GRCh37
NC_000007.12:g.87012228T>C	NCBI36
NG_011513.1:g.173273A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.1911A>G	ENSP00000265724.3:p.Leu637=
ENST00000622132.5:c.1911A>G MANE Select	ENSP00000478255.1:p.Leu637=
ENST00000265724.7:c.1911A>G	ENSP00000265724.3:p.Leu637=
ENST00000543898.5:c.1719A>G	ENSP00000444095.1:p.Leu573=
ENST00000622132.4:c.1911A>G	ENSP00000478255.1:p.Leu637=
NM_000927.4:c.1911A>G	NP_000918.2:p.Leu637=
NM_001348944.1:c.1911A>G	NP_001335873.1:p.Leu637=
NM_001348945.1:c.2121A>G	NP_001335874.1:p.Leu707=
NM_001348946.1:c.1911A>G	NP_001335875.1:p.Leu637=
NM_001348946.2:c.1911A>G MANE Select	NP_001335875.1:p.Leu637=
NM_000927.5:c.1911A>G	NP_000918.2:p.Leu637=
NM_001348944.2:c.1911A>G	NP_001335873.1:p.Leu637=
NM_001348945.2:c.2121A>G	NP_001335874.1:p.Leu707=