Canonical Allele Identifier: CA341292661

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94509004G>T (hg19) ; chr1:g.94043448G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043448G>T , CM000663.2:g.94043448G>T	GRCh38
NC_000001.10:g.94509004G>T , CM000663.1:g.94509004G>T	GRCh37
NC_000001.9:g.94281592G>T	NCBI36
NG_009073.1:g.82702C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3078C>A MANE Select	ENSP00000359245.3:p.Phe1026Leu
ENST00000370225.3:c.3078C>A	ENSP00000359245.3:p.Phe1026Leu
ENST00000536513.5:c.-64-3359C>A	ENSP00000439707.2:n.-64-3359C>A
NM_000350.2:c.3078C>A	NP_000341.2:p.Phe1026Leu
NM_000350.3:c.3078C>A MANE Select	NP_000341.2:p.Phe1026Leu