Canonical Allele Identifier: CA341290789

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94506841T>A (hg19) ; chr1:g.94041285T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041285T>A , CM000663.2:g.94041285T>A	GRCh38
NC_000001.10:g.94506841T>A , CM000663.1:g.94506841T>A	GRCh37
NC_000001.9:g.94279429T>A	NCBI36
NG_009073.1:g.84865A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3446A>T MANE Select	ENSP00000359245.3:p.Asn1149Ile
ENST00000370225.3:c.3446A>T	ENSP00000359245.3:p.Asn1149Ile
ENST00000536513.5:c.-64-1196A>T	ENSP00000439707.2:n.-64-1196A>T
NM_000350.2:c.3446A>T	NP_000341.2:p.Asn1149Ile
NM_000350.3:c.3446A>T MANE Select	NP_000341.2:p.Asn1149Ile