Canonical Allele Identifier: CA958296
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 417985
ClinVar RCV Id: RCV000478565
dbSNP Id: rs781254854
ExAC: 1:94522186 G / C
gnomAD v2: 1-94522186-G-C
gnomAD v3: 1-94056630-G-C
gnomAD v4: 1-94056630-G-C
MyVariant Identifiers: chr1:g.94522186G>C (hg19) chr1:g.94056630G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056630G>C , CM000663.2:g.94056630G>C GRCh38
NC_000001.10:g.94522186G>C , CM000663.1:g.94522186G>C GRCh37
NC_000001.9:g.94294774G>C NCBI36
NG_009073.1:g.69520C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2353C>G MANE Select ENSP00000359245.3:p.Arg785Gly
ENST00000649773.1:c.2161-1315C>G ENSP00000496882.1:n.2161-1315C>G
ENST00000370225.3:c.2353C>G ENSP00000359245.3:p.Arg785Gly
ENST00000536513.5:c.-65+6544C>G ENSP00000439707.2:n.-65+6544C>G
NM_000350.2:c.2353C>G NP_000341.2:p.Arg785Gly
NM_000350.3:c.2353C>G MANE Select NP_000341.2:p.Arg785Gly
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