Canonical Allele Identifier: CA957460
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs765481184
ExAC: 1:94487246 T / C
gnomAD v2: 1-94487246-T-C
gnomAD v4: 1-94021690-T-C
MyVariant Identifiers: chr1:g.94487246T>C (hg19) chr1:g.94021690T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021690T>C , CM000663.2:g.94021690T>C GRCh38
NC_000001.10:g.94487246T>C , CM000663.1:g.94487246T>C GRCh37
NC_000001.9:g.94259834T>C NCBI36
NG_009073.1:g.104460A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4798A>G MANE Select ENSP00000359245.3:p.Lys1600Glu
ENST00000370225.3:c.4798A>G ENSP00000359245.3:p.Lys1600Glu
ENST00000460514.1:n.292A>G
ENST00000536513.5:c.1174A>G ENSP00000439707.2:p.Lys392Glu
NM_000350.2:c.4798A>G NP_000341.2:p.Lys1600Glu
NM_000350.3:c.4798A>G MANE Select NP_000341.2:p.Lys1600Glu
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