Canonical Allele Identifier: CA341283676
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1359074
ClinVar RCV Id: RCV001904317
dbSNP Id: rs1281982868
gnomAD v2: 1-94487252-C-T
gnomAD v3: 1-94021696-C-T
gnomAD v4: 1-94021696-C-T
MyVariant Identifiers: chr1:g.94487252C>T (hg19) chr1:g.94021696C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021696C>T , CM000663.2:g.94021696C>T GRCh38
NC_000001.10:g.94487252C>T , CM000663.1:g.94487252C>T GRCh37
NC_000001.9:g.94259840C>T NCBI36
NG_009073.1:g.104454G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4792G>A MANE Select ENSP00000359245.3:p.Ala1598Thr
ENST00000370225.3:c.4792G>A ENSP00000359245.3:p.Ala1598Thr
ENST00000460514.1:n.286G>A
ENST00000536513.5:c.1168G>A ENSP00000439707.2:p.Ala390Thr
NM_000350.2:c.4792G>A NP_000341.2:p.Ala1598Thr
NM_000350.3:c.4792G>A MANE Select NP_000341.2:p.Ala1598Thr
Search 100 bp 5'
Search 100 bp 3'