Canonical Allele Identifier: CA321819

Gene: ABCB7

Linked Data

• ClinVar Variation Id: 11574
• ClinVar RCV Id: RCV000012330 ; RCV000197371
• dbSNP Id: rs72554634
• MyVariant Identifiers: chrX:g.74291351A>C (hg19) ; chrX:g.75071516A>C (hg38)
• PubMed: PMID:4045952 ; PMID:10196363 ; PMID:20301496

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.75071516A>C , CM000685.2:g.75071516A>C	GRCh38
NC_000023.10:g.74291351A>C , CM000685.1:g.74291351A>C	GRCh37
NC_000023.9:g.74208076A>C	NCBI36
NG_007980.1:g.89782T>G
NG_007980.3:g.89768T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253577.9:c.1203T>G	ENSP00000253577.3:p.Ile401Met
ENST00000373394.8:c.1200T>G MANE Select	ENSP00000362492.3:p.Ile400Met
ENST00000620875.5:c.1083T>G	ENSP00000479985.1:p.Ile361Met
ENST00000644766.1:c.1203T>G	ENSP00000493713.1:p.Ile401Met
ENST00000645829.3:c.1215T>G	ENSP00000496526.2:p.Ile405Met
ENST00000663420.1:n.1120T>G
ENST00000666534.1:n.1090T>G
ENST00000669388.1:n.1061T>G
ENST00000669573.1:c.1023T>G	ENSP00000499543.1:p.Ile341Met
ENST00000253577.7:c.1203T>G	ENSP00000253577.3:p.Ile401Met
ENST00000339447.8:c.1080T>G	ENSP00000343849.4:p.Ile360Met
ENST00000373394.7:c.1200T>G	ENSP00000362492.3:p.Ile400Met
ENST00000469368.1:n.66T>G
ENST00000529949.5:c.1122T>G	ENSP00000436586.1:p.Ile374Met
ENST00000534570.5:n.312T>G
ENST00000620875.4:c.1083T>G	ENSP00000479985.1:p.Ile361Met
NM_001271696.1:c.1200T>G	NP_001258625.1:p.Ile400Met
NM_001271697.1:c.1080T>G	NP_001258626.1:p.Ile360Met
NM_001271698.1:c.1122T>G	NP_001258627.1:p.Ile374Met
NM_001271699.1:c.1083T>G	NP_001258628.1:p.Ile361Met
NM_004299.4:c.1203T>G	NP_004290.2:p.Ile401Met
NM_001271696.2:c.1200T>G	NP_001258625.1:p.Ile400Met
NM_001271697.2:c.1080T>G	NP_001258626.1:p.Ile360Met
NM_001271698.2:c.1122T>G	NP_001258627.1:p.Ile374Met
NM_001271699.2:c.1083T>G	NP_001258628.1:p.Ile361Met
NM_004299.6:c.1203T>G	NP_004290.2:p.Ile401Met
NM_001271696.3:c.1200T>G MANE Select	NP_001258625.1:p.Ile400Met
NM_001271697.3:c.1080T>G	NP_001258626.1:p.Ile360Met
NM_001271698.3:c.1122T>G	NP_001258627.1:p.Ile374Met
NM_001271699.3:c.1083T>G	NP_001258628.1:p.Ile361Met