Canonical Allele Identifier: CA341276543

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94463569A>T (hg19) ; chr1:g.93998013A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93998013A>T , CM000663.2:g.93998013A>T	GRCh38
NC_000001.10:g.94463569A>T , CM000663.1:g.94463569A>T	GRCh37
NC_000001.9:g.94236157A>T	NCBI36
NG_009073.1:g.128137T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6577T>A MANE Select	ENSP00000359245.3:p.Phe2193Ile
ENST00000370225.3:c.6577T>A	ENSP00000359245.3:p.Phe2193Ile
ENST00000536513.5:c.2953T>A	ENSP00000439707.2:p.Phe985Ile
NM_000350.2:c.6577T>A	NP_000341.2:p.Phe2193Ile
NM_000350.3:c.6577T>A MANE Select	NP_000341.2:p.Phe2193Ile