Canonical Allele Identifier: CA418826360
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2092706
ClinVar RCV Id: RCV002996634
dbSNP Id: rs1660483475
gnomAD v4: 1-94041395-G-T
MyVariant Identifiers: chr1:g.94506951G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041395G>T , CM000663.2:g.94041395G>T GRCh38
NC_000001.10:g.94506951G>T , CM000663.1:g.94506951G>T GRCh37
NC_000001.9:g.94279539G>T NCBI36
NG_009073.1:g.84755C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3336C>A MANE Select ENSP00000359245.3:p.Thr1112=
ENST00000370225.3:c.3336C>A ENSP00000359245.3:p.Thr1112=
ENST00000536513.5:c.-64-1306C>A ENSP00000439707.2:n.-64-1306C>A
NM_000350.2:c.3336C>A NP_000341.2:p.Thr1112=
NM_000350.3:c.3336C>A MANE Select NP_000341.2:p.Thr1112=
Search 100 bp 5'
Search 100 bp 3'