Canonical Allele Identifier: CA958319
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs747460910
ExAC: 1:94522352 G / A
gnomAD v2: 1-94522352-G-A
gnomAD v4: 1-94056796-G-A
MyVariant Identifiers: chr1:g.94522352G>A (hg19) chr1:g.94056796G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056796G>A , CM000663.2:g.94056796G>A GRCh38
NC_000001.10:g.94522352G>A , CM000663.1:g.94522352G>A GRCh37
NC_000001.9:g.94294940G>A NCBI36
NG_009073.1:g.69354C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2187C>T MANE Select ENSP00000359245.3:p.Asp729=
ENST00000649773.1:c.2161-1481C>T ENSP00000496882.1:n.2161-1481C>T
ENST00000370225.3:c.2187C>T ENSP00000359245.3:p.Asp729=
ENST00000536513.5:c.-65+6378C>T ENSP00000439707.2:n.-65+6378C>T
NM_000350.2:c.2187C>T NP_000341.2:p.Asp729=
NM_000350.3:c.2187C>T MANE Select NP_000341.2:p.Asp729=
Search 100 bp 5'
Search 100 bp 3'