Canonical Allele Identifier: CA957913
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs761359689
ExAC: 1:94506721 T / A
gnomAD v2: 1-94506721-T-A
gnomAD v4: 1-94041165-T-A
MyVariant Identifiers: chr1:g.94506721T>A (hg19) chr1:g.94041165T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041165T>A , CM000663.2:g.94041165T>A GRCh38
NC_000001.10:g.94506721T>A , CM000663.1:g.94506721T>A GRCh37
NC_000001.9:g.94279309T>A NCBI36
NG_009073.1:g.84985A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3522+44A>T MANE Select ENSP00000359245.3:n.3522+44A>T
ENST00000370225.3:c.3522+44A>T ENSP00000359245.3:n.3522+44A>T
ENST00000536513.5:c.-64-1076A>T ENSP00000439707.2:n.-64-1076A>T
NM_000350.2:c.3522+44A>T NP_000341.2:n.3522+44A>T
NM_000350.3:c.3522+44A>T MANE Select NP_000341.2:n.3522+44A>T
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