Canonical Allele Identifier: CA418812140

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94467477C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001921C>T , CM000663.2:g.94001921C>T	GRCh38
NC_000001.10:g.94467477C>T , CM000663.1:g.94467477C>T	GRCh37
NC_000001.9:g.94240065C>T	NCBI36
NG_009073.1:g.124229G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6219G>A MANE Select	ENSP00000359245.3:p.Gly2073=
ENST00000370225.3:c.6219G>A	ENSP00000359245.3:p.Gly2073=
ENST00000465352.1:n.635G>A
ENST00000536513.5:c.2595G>A	ENSP00000439707.2:p.Gly865=
NM_000350.2:c.6219G>A	NP_000341.2:p.Gly2073=
NM_000350.3:c.6219G>A MANE Select	NP_000341.2:p.Gly2073=