Canonical Allele Identifier: CA524697615
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 3009061
ClinVar RCV Id: RCV003869212
dbSNP Id: rs1478652312
gnomAD v2: 1-94528314-G-C
gnomAD v4: 1-94062758-G-C
MyVariant Identifiers: chr1:g.94528314G>C (hg19) chr1:g.94062758G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062758G>C , CM000663.2:g.94062758G>C GRCh38
NC_000001.10:g.94528314G>C , CM000663.1:g.94528314G>C GRCh37
NC_000001.9:g.94300902G>C NCBI36
NG_009073.1:g.63392C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1761-5C>G MANE Select ENSP00000359245.3:n.1761-5C>G
ENST00000649773.1:c.1761-5C>G ENSP00000496882.1:n.1761-5C>G
ENST00000370225.3:c.1761-5C>G ENSP00000359245.3:n.1761-5C>G
ENST00000536513.5:c.-65+416C>G ENSP00000439707.2:n.-65+416C>G
NM_000350.2:c.1761-5C>G NP_000341.2:n.1761-5C>G
NM_000350.3:c.1761-5C>G MANE Select NP_000341.2:n.1761-5C>G
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