Canonical Allele Identifier: CA341275679
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-93996116-T-C
MyVariant Identifiers: chr1:g.94461672T>C (hg19) chr1:g.93996116T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93996116T>C , CM000663.2:g.93996116T>C GRCh38
NC_000001.10:g.94461672T>C , CM000663.1:g.94461672T>C GRCh37
NC_000001.9:g.94234260T>C NCBI36
NG_009073.1:g.130034A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.6809A>G MANE Select ENSP00000359245.3:p.Gln2270Arg
ENST00000370225.3:c.6809A>G ENSP00000359245.3:p.Gln2270Arg
ENST00000536513.5:c.3185A>G ENSP00000439707.2:p.Gln1062Arg
NM_000350.2:c.6809A>G NP_000341.2:p.Gln2270Arg
NM_000350.3:c.6809A>G MANE Select NP_000341.2:p.Gln2270Arg
Search 100 bp 5'
Search 100 bp 3'