Canonical Allele Identifier: CA958284
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs767933372
ExAC: 1:94522108 C / T
gnomAD v2: 1-94522108-C-T
gnomAD v4: 1-94056552-C-T
MyVariant Identifiers: chr1:g.94522108C>T (hg19) chr1:g.94056552C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056552C>T , CM000663.2:g.94056552C>T GRCh38
NC_000001.10:g.94522108C>T , CM000663.1:g.94522108C>T GRCh37
NC_000001.9:g.94294696C>T NCBI36
NG_009073.1:g.69598G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2382+49G>A MANE Select ENSP00000359245.3:n.2382+49G>A
ENST00000649773.1:c.2161-1237G>A ENSP00000496882.1:n.2161-1237G>A
ENST00000370225.3:c.2382+49G>A ENSP00000359245.3:n.2382+49G>A
ENST00000536513.5:c.-65+6622G>A ENSP00000439707.2:n.-65+6622G>A
NM_000350.2:c.2382+49G>A NP_000341.2:n.2382+49G>A
NM_000350.3:c.2382+49G>A MANE Select NP_000341.2:n.2382+49G>A
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