Canonical Allele Identifier: CA341278276
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs778066205
gnomAD v3: 1-94001931-G-T
gnomAD v4: 1-94001931-G-T
MyVariant Identifiers: chr1:g.94467487G>T (hg19) chr1:g.94001931G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001931G>T , CM000663.2:g.94001931G>T GRCh38
NC_000001.10:g.94467487G>T , CM000663.1:g.94467487G>T GRCh37
NC_000001.9:g.94240075G>T NCBI36
NG_009073.1:g.124219C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6209C>A MANE Select ENSP00000359245.3:p.Thr2070Lys
ENST00000370225.3:c.6209C>A ENSP00000359245.3:p.Thr2070Lys
ENST00000465352.1:n.625C>A
ENST00000536513.5:c.2585C>A ENSP00000439707.2:p.Thr862Lys
NM_000350.2:c.6209C>A NP_000341.2:p.Thr2070Lys
NM_000350.3:c.6209C>A MANE Select NP_000341.2:p.Thr2070Lys
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