Canonical Allele Identifier: CA341278459
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1239889663
gnomAD v2: 1-94526116-A-G
gnomAD v4: 1-94060560-A-G
MyVariant Identifiers: chr1:g.94526116A>G (hg19) chr1:g.94060560A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060560A>G , CM000663.2:g.94060560A>G GRCh38
NC_000001.10:g.94526116A>G , CM000663.1:g.94526116A>G GRCh37
NC_000001.9:g.94298704A>G NCBI36
NG_009073.1:g.65590T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2137T>C MANE Select ENSP00000359245.3:p.Phe713Leu
ENST00000649773.1:c.2137T>C ENSP00000496882.1:p.Phe713Leu
ENST00000370225.3:c.2137T>C ENSP00000359245.3:p.Phe713Leu
ENST00000472033.1:n.257T>C
ENST00000536513.5:c.-65+2614T>C ENSP00000439707.2:n.-65+2614T>C
NM_000350.2:c.2137T>C NP_000341.2:p.Phe713Leu
NM_000350.3:c.2137T>C MANE Select NP_000341.2:p.Phe713Leu
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