Canonical Allele Identifier: CA524383209
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1345735518
gnomAD v2: 1-94473757-G-C
gnomAD v3: 1-94008201-G-C
gnomAD v4: 1-94008201-G-C
MyVariant Identifiers: chr1:g.94473757G>C (hg19) chr1:g.94008201G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94008201G>C , CM000663.2:g.94008201G>C GRCh38
NC_000001.10:g.94473757G>C , CM000663.1:g.94473757G>C GRCh37
NC_000001.9:g.94246345G>C NCBI36
NG_009073.1:g.117949C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5898+34C>G MANE Select ENSP00000359245.3:n.5898+34C>G
ENST00000370225.3:c.5898+34C>G ENSP00000359245.3:n.5898+34C>G
ENST00000465352.1:n.314+34C>G
ENST00000536513.5:c.2274+34C>G ENSP00000439707.2:n.2274+34C>G
NM_000350.2:c.5898+34C>G NP_000341.2:n.5898+34C>G
NM_000350.3:c.5898+34C>G MANE Select NP_000341.2:n.5898+34C>G
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