Canonical Allele Identifier: CA957915
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs772998198
ExAC: 1:94506723 C / T
gnomAD v2: 1-94506723-C-T
gnomAD v3: 1-94041167-C-T
gnomAD v4: 1-94041167-C-T
MyVariant Identifiers: chr1:g.94506723C>T (hg19) chr1:g.94041167C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041167C>T , CM000663.2:g.94041167C>T GRCh38
NC_000001.10:g.94506723C>T , CM000663.1:g.94506723C>T GRCh37
NC_000001.9:g.94279311C>T NCBI36
NG_009073.1:g.84983G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.3522+42G>A MANE Select ENSP00000359245.3:n.3522+42G>A
ENST00000370225.3:c.3522+42G>A ENSP00000359245.3:n.3522+42G>A
ENST00000536513.5:c.-64-1078G>A ENSP00000439707.2:n.-64-1078G>A
NM_000350.2:c.3522+42G>A NP_000341.2:n.3522+42G>A
NM_000350.3:c.3522+42G>A MANE Select NP_000341.2:n.3522+42G>A
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