Canonical Allele Identifier: CA1140725980

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001046C= , CM000663.2:g.94001046C=	GRCh38
NC_000001.10:g.94466602C= , CM000663.1:g.94466602C=	GRCh37
NC_000001.9:g.94239190C=	NCBI36
NG_009073.1:g.125104G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6342G= MANE Select	ENSP00000359245.3:p.Val2114=
ENST00000370225.3:c.6342G=	ENSP00000359245.3:p.Val2114=
ENST00000536513.5:c.2718G=	ENSP00000439707.2:p.Val906=
NM_000350.2:c.6342G=	NP_000341.2:p.Val2114=
NM_000350.3:c.6342G= MANE Select	NP_000341.2:p.Val2114=