Canonical Allele Identifier: CA341279178
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1421487671
gnomAD v3: 1-94062591-G-C
gnomAD v4: 1-94062591-G-C
MyVariant Identifiers: chr1:g.94528147G>C (hg19) chr1:g.94062591G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062591G>C , CM000663.2:g.94062591G>C GRCh38
NC_000001.10:g.94528147G>C , CM000663.1:g.94528147G>C GRCh37
NC_000001.9:g.94300735G>C NCBI36
NG_009073.1:g.63559C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1923C>G MANE Select ENSP00000359245.3:p.Cys641Trp
ENST00000649773.1:c.1923C>G ENSP00000496882.1:p.Cys641Trp
ENST00000370225.3:c.1923C>G ENSP00000359245.3:p.Cys641Trp
ENST00000536513.5:c.-65+583C>G ENSP00000439707.2:n.-65+583C>G
NM_000350.2:c.1923C>G NP_000341.2:p.Cys641Trp
NM_000350.3:c.1923C>G MANE Select NP_000341.2:p.Cys641Trp
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