Canonical Allele Identifier: CA958131
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs754082669
ExAC: 1:94512520 A / G
gnomAD v2: 1-94512520-A-G
gnomAD v4: 1-94046964-A-G
MyVariant Identifiers: chr1:g.94512520A>G (hg19) chr1:g.94046964A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046964A>G , CM000663.2:g.94046964A>G GRCh38
NC_000001.10:g.94512520A>G , CM000663.1:g.94512520A>G GRCh37
NC_000001.9:g.94285108A>G NCBI36
NG_009073.1:g.79186T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2873T>C MANE Select ENSP00000359245.3:p.Ile958Thr
ENST00000649773.1:c.2651T>C ENSP00000496882.1:p.Ile884Thr
ENST00000370225.3:c.2873T>C ENSP00000359245.3:p.Ile958Thr
ENST00000536513.5:c.-64-6875T>C ENSP00000439707.2:n.-64-6875T>C
NM_000350.2:c.2873T>C NP_000341.2:p.Ile958Thr
NM_000350.3:c.2873T>C MANE Select NP_000341.2:p.Ile958Thr
Search 100 bp 5'
Search 100 bp 3'