Canonical Allele Identifier: CA524697326
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2124643
ClinVar RCV Id: RCV003039718
dbSNP Id: rs781077412
gnomAD v2: 1-94466547-G-T
gnomAD v3: 1-94000991-G-T
gnomAD v4: 1-94000991-G-T
MyVariant Identifiers: chr1:g.94466547G>T (hg19) chr1:g.94000991G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94000991G>T , CM000663.2:g.94000991G>T GRCh38
NC_000001.10:g.94466547G>T , CM000663.1:g.94466547G>T GRCh37
NC_000001.9:g.94239135G>T NCBI36
NG_009073.1:g.125159C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6386+11C>A MANE Select ENSP00000359245.3:n.6386+11C>A
ENST00000370225.3:c.6386+11C>A ENSP00000359245.3:n.6386+11C>A
ENST00000536513.5:c.2762+11C>A ENSP00000439707.2:n.2762+11C>A
NM_000350.2:c.6386+11C>A NP_000341.2:n.6386+11C>A
NM_000350.3:c.6386+11C>A MANE Select NP_000341.2:n.6386+11C>A
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