Canonical Allele Identifier: CA16043293

Gene: ABCB7

Linked Data

• ClinVar Variation Id: 372878
• ClinVar RCV Id: RCV000412721 ; RCV000578445
• dbSNP Id: rs1057518042
• MyVariant Identifiers: chrX:g.74290330A>G (hg19) ; chrX:g.75070495A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.75070495A>G , CM000685.2:g.75070495A>G	GRCh38
NC_000023.10:g.74290330A>G , CM000685.1:g.74290330A>G	GRCh37
NC_000023.9:g.74207055A>G	NCBI36
NG_007980.1:g.90803T>C
NG_007980.3:g.90789T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253577.9:c.1238T>C	ENSP00000253577.3:p.Met413Thr
ENST00000373394.8:c.1235T>C MANE Select	ENSP00000362492.3:p.Met412Thr
ENST00000620875.5:c.1118T>C	ENSP00000479985.1:p.Met373Thr
ENST00000644766.1:c.1238T>C	ENSP00000493713.1:p.Met413Thr
ENST00000645829.3:c.1250T>C	ENSP00000496526.2:p.Met417Thr
ENST00000663420.1:n.1155T>C
ENST00000666534.1:n.1125T>C
ENST00000669388.1:n.1096T>C
ENST00000669573.1:c.1058T>C	ENSP00000499543.1:p.Met353Thr
ENST00000253577.7:c.1238T>C	ENSP00000253577.3:p.Met413Thr
ENST00000339447.8:c.1115T>C	ENSP00000343849.4:p.Met372Thr
ENST00000373394.7:c.1235T>C	ENSP00000362492.3:p.Met412Thr
ENST00000469368.1:n.101T>C
ENST00000529949.5:c.1157T>C	ENSP00000436586.1:p.Met386Thr
ENST00000534570.5:n.347T>C
ENST00000620875.4:c.1118T>C	ENSP00000479985.1:p.Met373Thr
NM_001271696.1:c.1235T>C	NP_001258625.1:p.Met412Thr
NM_001271697.1:c.1115T>C	NP_001258626.1:p.Met372Thr
NM_001271698.1:c.1157T>C	NP_001258627.1:p.Met386Thr
NM_001271699.1:c.1118T>C	NP_001258628.1:p.Met373Thr
NM_004299.4:c.1238T>C	NP_004290.2:p.Met413Thr
NM_001271696.2:c.1235T>C	NP_001258625.1:p.Met412Thr
NM_001271697.2:c.1115T>C	NP_001258626.1:p.Met372Thr
NM_001271698.2:c.1157T>C	NP_001258627.1:p.Met386Thr
NM_001271699.2:c.1118T>C	NP_001258628.1:p.Met373Thr
NM_004299.6:c.1238T>C	NP_004290.2:p.Met413Thr
NM_001271696.3:c.1235T>C MANE Select	NP_001258625.1:p.Met412Thr
NM_001271697.3:c.1115T>C	NP_001258626.1:p.Met372Thr
NM_001271698.3:c.1157T>C	NP_001258627.1:p.Met386Thr
NM_001271699.3:c.1118T>C	NP_001258628.1:p.Met373Thr