Canonical Allele Identifier: CA341278643
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1369466
ClinVar RCV Id: RCV001870650
dbSNP Id: rs1661097165
gnomAD v4: 1-94060643-G-A
MyVariant Identifiers: chr1:g.94526199G>A (hg19) chr1:g.94060643G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060643G>A , CM000663.2:g.94060643G>A GRCh38
NC_000001.10:g.94526199G>A , CM000663.1:g.94526199G>A GRCh37
NC_000001.9:g.94298787G>A NCBI36
NG_009073.1:g.65507C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2054C>T MANE Select ENSP00000359245.3:p.Thr685Ile
ENST00000649773.1:c.2054C>T ENSP00000496882.1:p.Thr685Ile
ENST00000370225.3:c.2054C>T ENSP00000359245.3:p.Thr685Ile
ENST00000472033.1:n.174C>T
ENST00000536513.5:c.-65+2531C>T ENSP00000439707.2:n.-65+2531C>T
NM_000350.2:c.2054C>T NP_000341.2:p.Thr685Ile
NM_000350.3:c.2054C>T MANE Select NP_000341.2:p.Thr685Ile
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Search 100 bp 3'