Canonical Allele Identifier: CA227211
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99298
ClinVar RCV Id: RCV000085651
dbSNP Id: rs61754050
gnomAD v3: 1-94029405-G-A
gnomAD v4: 1-94029405-G-A
MyVariant Identifiers: chr1:g.94494961G>A (hg19) chr1:g.94029405G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029405G>A , CM000663.2:g.94029405G>A GRCh38
NC_000001.10:g.94494961G>A , CM000663.1:g.94494961G>A GRCh37
NC_000001.9:g.94267549G>A NCBI36
NG_009073.1:g.96745C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4539+40C>T MANE Select ENSP00000359245.3:n.4539+40C>T
ENST00000370225.3:c.4539+40C>T ENSP00000359245.3:n.4539+40C>T
ENST00000536513.5:c.915+40C>T ENSP00000439707.2:n.915+40C>T
NM_000350.2:c.4539+40C>T NP_000341.2:n.4539+40C>T
NM_000350.3:c.4539+40C>T MANE Select NP_000341.2:n.4539+40C>T
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