Canonical Allele Identifier: CA957699
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs543127423
ExAC: 1:94496663 G / T
gnomAD v2: 1-94496663-G-T
gnomAD v3: 1-94031107-G-T
gnomAD v4: 1-94031107-G-T
MyVariant Identifiers: chr1:g.94496663G>T (hg19) chr1:g.94031107G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031107G>T , CM000663.2:g.94031107G>T GRCh38
NC_000001.10:g.94496663G>T , CM000663.1:g.94496663G>T GRCh37
NC_000001.9:g.94269251G>T NCBI36
NG_009073.1:g.95043C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4142C>A MANE Select ENSP00000359245.3:p.Ala1381Asp
ENST00000370225.3:c.4142C>A ENSP00000359245.3:p.Ala1381Asp
ENST00000536513.5:c.518C>A ENSP00000439707.2:p.Ala173Asp
NM_000350.2:c.4142C>A NP_000341.2:p.Ala1381Asp
NM_000350.3:c.4142C>A MANE Select NP_000341.2:p.Ala1381Asp
Search 100 bp 5'
Search 100 bp 3'