Canonical Allele Identifier: CA957917
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1193854
ClinVar RCV Id: RCV001556397
dbSNP Id: rs115209782
ExAC: 1:94506734 G / T
gnomAD v2: 1-94506734-G-T
gnomAD v3: 1-94041178-G-T
gnomAD v4: 1-94041178-G-T
MyVariant Identifiers: chr1:g.94506734G>T (hg19) chr1:g.94041178G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041178G>T , CM000663.2:g.94041178G>T GRCh38
NC_000001.10:g.94506734G>T , CM000663.1:g.94506734G>T GRCh37
NC_000001.9:g.94279322G>T NCBI36
NG_009073.1:g.84972C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3522+31C>A MANE Select ENSP00000359245.3:n.3522+31C>A
ENST00000370225.3:c.3522+31C>A ENSP00000359245.3:n.3522+31C>A
ENST00000536513.5:c.-64-1089C>A ENSP00000439707.2:n.-64-1089C>A
NM_000350.2:c.3522+31C>A NP_000341.2:n.3522+31C>A
NM_000350.3:c.3522+31C>A MANE Select NP_000341.2:n.3522+31C>A
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