Canonical Allele Identifier: CA958342
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs775836570
ExAC: 1:94526093 C / T
gnomAD v2: 1-94526093-C-T
gnomAD v4: 1-94060537-C-T
COSMIC: COSM1688058
MyVariant Identifiers: chr1:g.94526093C>T (hg19) chr1:g.94060537C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060537C>T , CM000663.2:g.94060537C>T GRCh38
NC_000001.10:g.94526093C>T , CM000663.1:g.94526093C>T GRCh37
NC_000001.9:g.94298681C>T NCBI36
NG_009073.1:g.65613G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2160G>A MANE Select ENSP00000359245.3:p.Met720Ile
ENST00000649773.1:c.2160G>A ENSP00000496882.1:p.Met720Ile
ENST00000370225.3:c.2160G>A ENSP00000359245.3:p.Met720Ile
ENST00000472033.1:n.280G>A
ENST00000536513.5:c.-65+2637G>A ENSP00000439707.2:n.-65+2637G>A
NM_000350.2:c.2160G>A NP_000341.2:p.Met720Ile
NM_000350.3:c.2160G>A MANE Select NP_000341.2:p.Met720Ile
Search 100 bp 5'
Search 100 bp 3'