Canonical Allele Identifier: CA289230

Gene: ABCB7

Linked Data

• ClinVar Variation Id: 136247
• ClinVar RCV Id: RCV000123445 ; RCV002055386
• dbSNP Id: rs73502896
• ExAC: X:74280041 A / T
• gnomAD v2: X-74280041-A-T
• gnomAD v3: X-75060206-A-T
• gnomAD v4: X-75060206-A-T
• MyVariant Identifiers: chrX:g.74280041A>T (hg19) ; chrX:g.75060206A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.75060206A>T , CM000685.2:g.75060206A>T	GRCh38
NC_000023.10:g.74280041A>T , CM000685.1:g.74280041A>T	GRCh37
NC_000023.9:g.74196766A>T	NCBI36
NG_007980.1:g.101092T>A
NG_007980.3:g.101078T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253577.9:c.2046+17T>A	ENSP00000253577.3:n.2046+17T>A
ENST00000373394.8:c.2043+17T>A MANE Select	ENSP00000362492.3:n.2043+17T>A
ENST00000620875.5:c.1926+17T>A	ENSP00000479985.1:n.1926+17T>A
ENST00000644766.1:c.*28+17T>A	ENSP00000493713.1:n.*28+17T>A
ENST00000645829.3:c.2058+17T>A	ENSP00000496526.2:n.2058+17T>A
ENST00000663420.1:n.1963+17T>A
ENST00000666534.1:n.1933+17T>A
ENST00000669573.1:c.1866+17T>A	ENSP00000499543.1:n.1866+17T>A
ENST00000253577.7:c.2046+17T>A	ENSP00000253577.3:n.2046+17T>A
ENST00000339447.8:c.1923+17T>A	ENSP00000343849.4:n.1923+17T>A
ENST00000373394.7:c.2043+17T>A	ENSP00000362492.3:n.2043+17T>A
ENST00000490858.1:n.408+17T>A
ENST00000529949.5:c.1965+17T>A	ENSP00000436586.1:n.1965+17T>A
ENST00000620875.4:c.1926+17T>A	ENSP00000479985.1:n.1926+17T>A
NM_001271696.1:c.2043+17T>A	NP_001258625.1:n.2043+17T>A
NM_001271697.1:c.1923+17T>A	NP_001258626.1:n.1923+17T>A
NM_001271698.1:c.1965+17T>A	NP_001258627.1:n.1965+17T>A
NM_001271699.1:c.1926+17T>A	NP_001258628.1:n.1926+17T>A
NM_004299.4:c.2046+17T>A	NP_004290.2:n.2046+17T>A
NM_001271696.2:c.2043+17T>A	NP_001258625.1:n.2043+17T>A
NM_001271697.2:c.1923+17T>A	NP_001258626.1:n.1923+17T>A
NM_001271698.2:c.1965+17T>A	NP_001258627.1:n.1965+17T>A
NM_001271699.2:c.1926+17T>A	NP_001258628.1:n.1926+17T>A
NM_004299.6:c.2046+17T>A	NP_004290.2:n.2046+17T>A
NM_001271696.3:c.2043+17T>A MANE Select	NP_001258625.1:n.2043+17T>A
NM_001271697.3:c.1923+17T>A	NP_001258626.1:n.1923+17T>A
NM_001271698.3:c.1965+17T>A	NP_001258627.1:n.1965+17T>A
NM_001271699.3:c.1926+17T>A	NP_001258628.1:n.1926+17T>A