Canonical Allele Identifier: CA957990
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 937731
ClinVar RCV Id: RCV001206815
dbSNP Id: rs572604704
ExAC: 1:94508347 T / C
gnomAD v2: 1-94508347-T-C
gnomAD v3: 1-94042791-T-C
gnomAD v4: 1-94042791-T-C
MyVariant Identifiers: chr1:g.94508347T>C (hg19) chr1:g.94042791T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94042791T>C , CM000663.2:g.94042791T>C GRCh38
NC_000001.10:g.94508347T>C , CM000663.1:g.94508347T>C GRCh37
NC_000001.9:g.94280935T>C NCBI36
NG_009073.1:g.83359A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3298A>G MANE Select ENSP00000359245.3:p.Ile1100Val
ENST00000370225.3:c.3298A>G ENSP00000359245.3:p.Ile1100Val
ENST00000536513.5:c.-64-2702A>G ENSP00000439707.2:n.-64-2702A>G
NM_000350.2:c.3298A>G NP_000341.2:p.Ile1100Val
NM_000350.3:c.3298A>G MANE Select NP_000341.2:p.Ile1100Val
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Search 100 bp 3'