Canonical Allele Identifier: CA341105

Gene: ABCB7

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.75070499C>G , CM000685.2:g.75070499C>G	GRCh38
NC_000023.10:g.74290334C>G , CM000685.1:g.74290334C>G	GRCh37
NC_000023.9:g.74207059C>G	NCBI36
NG_007980.1:g.90799G>C
NG_007980.3:g.90785G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253577.9:c.1234G>C	ENSP00000253577.3:p.Val412Leu
ENST00000373394.8:c.1231G>C MANE Select	ENSP00000362492.3:p.Val411Leu
ENST00000620875.5:c.1114G>C	ENSP00000479985.1:p.Val372Leu
ENST00000644766.1:c.1234G>C	ENSP00000493713.1:p.Val412Leu
ENST00000645829.3:c.1246G>C	ENSP00000496526.2:p.Val416Leu
ENST00000663420.1:n.1151G>C
ENST00000666534.1:n.1121G>C
ENST00000669388.1:n.1092G>C
ENST00000669573.1:c.1054G>C	ENSP00000499543.1:p.Val352Leu
ENST00000253577.7:c.1234G>C	ENSP00000253577.3:p.Val412Leu
ENST00000339447.8:c.1111G>C	ENSP00000343849.4:p.Val371Leu
ENST00000373394.7:c.1231G>C	ENSP00000362492.3:p.Val411Leu
ENST00000469368.1:n.97G>C
ENST00000529949.5:c.1153G>C	ENSP00000436586.1:p.Val385Leu
ENST00000534570.5:n.343G>C
ENST00000620875.4:c.1114G>C	ENSP00000479985.1:p.Val372Leu
NM_001271696.1:c.1231G>C	NP_001258625.1:p.Val411Leu
NM_001271697.1:c.1111G>C	NP_001258626.1:p.Val371Leu
NM_001271698.1:c.1153G>C	NP_001258627.1:p.Val385Leu
NM_001271699.1:c.1114G>C	NP_001258628.1:p.Val372Leu
NM_004299.4:c.1234G>C	NP_004290.2:p.Val412Leu
NM_001271696.2:c.1231G>C	NP_001258625.1:p.Val411Leu
NM_001271697.2:c.1111G>C	NP_001258626.1:p.Val371Leu
NM_001271698.2:c.1153G>C	NP_001258627.1:p.Val385Leu
NM_001271699.2:c.1114G>C	NP_001258628.1:p.Val372Leu
NM_004299.6:c.1234G>C	NP_004290.2:p.Val412Leu
NM_001271696.3:c.1231G>C MANE Select	NP_001258625.1:p.Val411Leu
NM_001271697.3:c.1111G>C	NP_001258626.1:p.Val371Leu
NM_001271698.3:c.1153G>C	NP_001258627.1:p.Val385Leu
NM_001271699.3:c.1114G>C	NP_001258628.1:p.Val372Leu