Canonical Allele Identifier: CA26841998

Gene: ABCA4

Linked Data

• dbSNP Id: rs267598774
• gnomAD v4: 1-94051696-C-T
• MyVariant Identifiers: chr1:g.94517252C>T (hg19) ; chr1:g.94051696C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94051696C>T , CM000663.2:g.94051696C>T	GRCh38
NC_000001.10:g.94517252C>T , CM000663.1:g.94517252C>T	GRCh37
NC_000001.9:g.94289840C>T	NCBI36
NG_009073.1:g.74454G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2590G>A MANE Select	ENSP00000359245.3:p.Asp864Asn
ENST00000649773.1:c.2368G>A	ENSP00000496882.1:p.Asp790Asn
ENST00000370225.3:c.2590G>A	ENSP00000359245.3:p.Asp864Asn
ENST00000536513.5:c.-65+11478G>A	ENSP00000439707.2:n.-65+11478G>A
NM_000350.2:c.2590G>A	NP_000341.2:p.Asp864Asn
NM_000350.3:c.2590G>A MANE Select	NP_000341.2:p.Asp864Asn