Canonical Allele Identifier: CA958290
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs764924109
ExAC: 1:94522151 C / T
gnomAD v2: 1-94522151-C-T
gnomAD v4: 1-94056595-C-T
COSMIC: COSM5937926
MyVariant Identifiers: chr1:g.94522151C>T (hg19) chr1:g.94056595C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056595C>T , CM000663.2:g.94056595C>T GRCh38
NC_000001.10:g.94522151C>T , CM000663.1:g.94522151C>T GRCh37
NC_000001.9:g.94294739C>T NCBI36
NG_009073.1:g.69555G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2382+6G>A MANE Select ENSP00000359245.3:n.2382+6G>A
ENST00000649773.1:c.2161-1280G>A ENSP00000496882.1:n.2161-1280G>A
ENST00000370225.3:c.2382+6G>A ENSP00000359245.3:n.2382+6G>A
ENST00000536513.5:c.-65+6579G>A ENSP00000439707.2:n.-65+6579G>A
NM_000350.2:c.2382+6G>A NP_000341.2:n.2382+6G>A
NM_000350.3:c.2382+6G>A MANE Select NP_000341.2:n.2382+6G>A
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