Canonical Allele Identifier: CA341278302

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94467500A>T (hg19) ; chr1:g.94001944A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001944A>T , CM000663.2:g.94001944A>T	GRCh38
NC_000001.10:g.94467500A>T , CM000663.1:g.94467500A>T	GRCh37
NC_000001.9:g.94240088A>T	NCBI36
NG_009073.1:g.124206T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6196T>A MANE Select	ENSP00000359245.3:p.Cys2066Ser
ENST00000370225.3:c.6196T>A	ENSP00000359245.3:p.Cys2066Ser
ENST00000465352.1:n.612T>A
ENST00000536513.5:c.2572T>A	ENSP00000439707.2:p.Cys858Ser
NM_000350.2:c.6196T>A	NP_000341.2:p.Cys2066Ser
NM_000350.3:c.6196T>A MANE Select	NP_000341.2:p.Cys2066Ser