Canonical Allele Identifier: CA341277737

Gene: ABCA4

Linked Data

• dbSNP Id: rs1660984171
• MyVariant Identifiers: chr1:g.94522197G>C (hg19) ; chr1:g.94056641G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94056641G>C , CM000663.2:g.94056641G>C	GRCh38
NC_000001.10:g.94522197G>C , CM000663.1:g.94522197G>C	GRCh37
NC_000001.9:g.94294785G>C	NCBI36
NG_009073.1:g.69509C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.2342C>G MANE Select	ENSP00000359245.3:p.Ala781Gly
ENST00000649773.1:c.2161-1326C>G	ENSP00000496882.1:n.2161-1326C>G
ENST00000370225.3:c.2342C>G	ENSP00000359245.3:p.Ala781Gly
ENST00000536513.5:c.-65+6533C>G	ENSP00000439707.2:n.-65+6533C>G
NM_000350.2:c.2342C>G	NP_000341.2:p.Ala781Gly
NM_000350.3:c.2342C>G MANE Select	NP_000341.2:p.Ala781Gly