Canonical Allele Identifier: CA958029
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs748414040
ExAC: 1:94508896 T / A
gnomAD v2: 1-94508896-T-A
gnomAD v3: 1-94043340-T-A
gnomAD v4: 1-94043340-T-A
MyVariant Identifiers: chr1:g.94508896T>A (hg19) chr1:g.94043340T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043340T>A , CM000663.2:g.94043340T>A GRCh38
NC_000001.10:g.94508896T>A , CM000663.1:g.94508896T>A GRCh37
NC_000001.9:g.94281484T>A NCBI36
NG_009073.1:g.82810A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.3186A>T MANE Select ENSP00000359245.3:p.Leu1062=
ENST00000370225.3:c.3186A>T ENSP00000359245.3:p.Leu1062=
ENST00000536513.5:c.-64-3251A>T ENSP00000439707.2:n.-64-3251A>T
NM_000350.2:c.3186A>T NP_000341.2:p.Leu1062=
NM_000350.3:c.3186A>T MANE Select NP_000341.2:p.Leu1062=
Search 100 bp 5'
Search 100 bp 3'