Canonical Allele Identifier: CA227317
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99383
ClinVar RCV Id: RCV000085737 RCV003152681
dbSNP Id: rs61750575
ExAC: 1:94476865 A / G
gnomAD v2: 1-94476865-A-G
gnomAD v3: 1-94011309-A-G
gnomAD v4: 1-94011309-A-G
COSMIC: COSM4912848
MyVariant Identifiers: chr1:g.94476865A>G (hg19) chr1:g.94011309A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94011309A>G , CM000663.2:g.94011309A>G GRCh38
NC_000001.10:g.94476865A>G , CM000663.1:g.94476865A>G GRCh37
NC_000001.9:g.94249453A>G NCBI36
NG_009073.1:g.114841T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5537T>C MANE Select ENSP00000359245.3:p.Ile1846Thr
ENST00000370225.3:c.5537T>C ENSP00000359245.3:p.Ile1846Thr
ENST00000536513.5:c.1913T>C ENSP00000439707.2:p.Ile638Thr
NM_000350.2:c.5537T>C NP_000341.2:p.Ile1846Thr
NM_000350.3:c.5537T>C MANE Select NP_000341.2:p.Ile1846Thr
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