Canonical Allele Identifier: CA341283684
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1216892888
gnomAD v2: 1-94487255-C-G
gnomAD v4: 1-94021699-C-G
MyVariant Identifiers: chr1:g.94487255C>G (hg19) chr1:g.94021699C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021699C>G , CM000663.2:g.94021699C>G GRCh38
NC_000001.10:g.94487255C>G , CM000663.1:g.94487255C>G GRCh37
NC_000001.9:g.94259843C>G NCBI36
NG_009073.1:g.104451G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4789G>C MANE Select ENSP00000359245.3:p.Glu1597Gln
ENST00000370225.3:c.4789G>C ENSP00000359245.3:p.Glu1597Gln
ENST00000460514.1:n.283G>C
ENST00000536513.5:c.1165G>C ENSP00000439707.2:p.Glu389Gln
NM_000350.2:c.4789G>C NP_000341.2:p.Glu1597Gln
NM_000350.3:c.4789G>C MANE Select NP_000341.2:p.Glu1597Gln
Search 100 bp 5'
Search 100 bp 3'