Canonical Allele Identifier: CA1181403229

Gene: ABCA4

Linked Data

• dbSNP Id: rs1659446735

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94008175G>C , CM000663.2:g.94008175G>C	GRCh38
NC_000001.10:g.94473731G>C , CM000663.1:g.94473731G>C	GRCh37
NC_000001.9:g.94246319G>C	NCBI36
NG_009073.1:g.117975C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.5898+60C>G MANE Select	ENSP00000359245.3:n.5898+60C>G
ENST00000370225.3:c.5898+60C>G	ENSP00000359245.3:n.5898+60C>G
ENST00000465352.1:n.314+60C>G
ENST00000536513.5:c.2274+60C>G	ENSP00000439707.2:n.2274+60C>G
NM_000350.2:c.5898+60C>G	NP_000341.2:n.5898+60C>G
NM_000350.3:c.5898+60C>G MANE Select	NP_000341.2:n.5898+60C>G