Canonical Allele Identifier: CA956896
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs760999534
ExAC: 1:94466597 A / T
gnomAD v2: 1-94466597-A-T
gnomAD v4: 1-94001041-A-T
MyVariant Identifiers: chr1:g.94466597A>T (hg19) chr1:g.94001041A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001041A>T , CM000663.2:g.94001041A>T GRCh38
NC_000001.10:g.94466597A>T , CM000663.1:g.94466597A>T GRCh37
NC_000001.9:g.94239185A>T NCBI36
NG_009073.1:g.125109T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6347T>A MANE Select ENSP00000359245.3:p.Ile2116Asn
ENST00000370225.3:c.6347T>A ENSP00000359245.3:p.Ile2116Asn
ENST00000536513.5:c.2723T>A ENSP00000439707.2:p.Ile908Asn
NM_000350.2:c.6347T>A NP_000341.2:p.Ile2116Asn
NM_000350.3:c.6347T>A MANE Select NP_000341.2:p.Ile2116Asn
Search 100 bp 5'
Search 100 bp 3'