Canonical Allele Identifier: CA956827
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs765287252
ExAC: 1:94463469 T / C
gnomAD v2: 1-94463469-T-C
gnomAD v4: 1-93997913-T-C
MyVariant Identifiers: chr1:g.94463469T>C (hg19) chr1:g.93997913T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997913T>C , CM000663.2:g.93997913T>C GRCh38
NC_000001.10:g.94463469T>C , CM000663.1:g.94463469T>C GRCh37
NC_000001.9:g.94236057T>C NCBI36
NG_009073.1:g.128237A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6677A>G MANE Select ENSP00000359245.3:p.Lys2226Arg
ENST00000370225.3:c.6677A>G ENSP00000359245.3:p.Lys2226Arg
ENST00000536513.5:c.3053A>G ENSP00000439707.2:p.Lys1018Arg
NM_000350.2:c.6677A>G NP_000341.2:p.Lys2226Arg
NM_000350.3:c.6677A>G MANE Select NP_000341.2:p.Lys2226Arg
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Search 100 bp 3'