Canonical Allele Identifier: CA1181419848

Gene: ABCA4

Linked Data

• dbSNP Id: rs1660470533

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041009G>A , CM000663.2:g.94041009G>A	GRCh38
NC_000001.10:g.94506565G>A , CM000663.1:g.94506565G>A	GRCh37
NC_000001.9:g.94279153G>A	NCBI36
NG_009073.1:g.85141C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3522+200C>T MANE Select	ENSP00000359245.3:n.3522+200C>T
ENST00000370225.3:c.3522+200C>T	ENSP00000359245.3:n.3522+200C>T
ENST00000536513.5:c.-64-920C>T	ENSP00000439707.2:n.-64-920C>T
NM_000350.2:c.3522+200C>T	NP_000341.2:n.3522+200C>T
NM_000350.3:c.3522+200C>T MANE Select	NP_000341.2:n.3522+200C>T