Canonical Allele Identifier: CA319882
Gene: ABCB7 HGNC NCBI

Linked Data

dbSNP Id: rs863223867
MyVariant Identifiers: chrX:g.74296362A>C (hg19) chrX:g.75076527A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.75076527A>C , CM000685.2:g.75076527A>C GRCh38
NC_000023.10:g.74296362A>C , CM000685.1:g.74296362A>C GRCh37
NC_000023.9:g.74213087A>C NCBI36
NG_007980.1:g.84771T>G
NG_007980.3:g.84757T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000253577.9:c.584T>G ENSP00000253577.3:p.Ile195Ser
ENST00000373394.8:c.581T>G MANE Select ENSP00000362492.3:p.Ile194Ser
ENST00000620875.5:c.464T>G ENSP00000479985.1:p.Ile155Ser
ENST00000644766.1:c.584T>G ENSP00000493713.1:p.Ile195Ser
ENST00000645829.3:c.596T>G ENSP00000496526.2:p.Ile199Ser
ENST00000663420.1:n.501T>G
ENST00000666534.1:n.471T>G
ENST00000669388.1:n.442T>G
ENST00000669573.1:c.581T>G ENSP00000499543.1:p.Ile194Ser
ENST00000253577.7:c.584T>G ENSP00000253577.3:p.Ile195Ser
ENST00000339447.8:c.461T>G ENSP00000343849.4:p.Ile154Ser
ENST00000373394.7:c.581T>G ENSP00000362492.3:p.Ile194Ser
ENST00000529949.5:c.503T>G ENSP00000436586.1:p.Ile168Ser
ENST00000534524.5:c.416T>G ENSP00000435521.1:p.Ile139Ser
ENST00000620875.4:c.464T>G ENSP00000479985.1:p.Ile155Ser
NM_001271696.1:c.581T>G NP_001258625.1:p.Ile194Ser
NM_001271697.1:c.461T>G NP_001258626.1:p.Ile154Ser
NM_001271698.1:c.503T>G NP_001258627.1:p.Ile168Ser
NM_001271699.1:c.464T>G NP_001258628.1:p.Ile155Ser
NM_004299.4:c.584T>G NP_004290.2:p.Ile195Ser
NM_001271696.2:c.581T>G NP_001258625.1:p.Ile194Ser
NM_001271697.2:c.461T>G NP_001258626.1:p.Ile154Ser
NM_001271698.2:c.503T>G NP_001258627.1:p.Ile168Ser
NM_001271699.2:c.464T>G NP_001258628.1:p.Ile155Ser
NM_004299.6:c.584T>G NP_004290.2:p.Ile195Ser
NM_001271696.3:c.581T>G MANE Select NP_001258625.1:p.Ile194Ser
NM_001271697.3:c.461T>G NP_001258626.1:p.Ile154Ser
NM_001271698.3:c.503T>G NP_001258627.1:p.Ile168Ser
NM_001271699.3:c.464T>G NP_001258628.1:p.Ile155Ser
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