Canonical Allele Identifier: CA341277799
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 856775
ClinVar RCV Id: RCV001062310
dbSNP Id: rs1660985145
MyVariant Identifiers: chr1:g.94522229G>C (hg19) chr1:g.94056673G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056673G>C , CM000663.2:g.94056673G>C GRCh38
NC_000001.10:g.94522229G>C , CM000663.1:g.94522229G>C GRCh37
NC_000001.9:g.94294817G>C NCBI36
NG_009073.1:g.69477C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2310C>G MANE Select ENSP00000359245.3:p.Phe770Leu
ENST00000649773.1:c.2161-1358C>G ENSP00000496882.1:n.2161-1358C>G
ENST00000370225.3:c.2310C>G ENSP00000359245.3:p.Phe770Leu
ENST00000536513.5:c.-65+6501C>G ENSP00000439707.2:n.-65+6501C>G
NM_000350.2:c.2310C>G NP_000341.2:p.Phe770Leu
NM_000350.3:c.2310C>G MANE Select NP_000341.2:p.Phe770Leu
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