Canonical Allele Identifier: CA220688
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 7884
ClinVar RCV Id: RCV002470704
dbSNP Id: rs41292677
ExAC: 1:94467548 C / G
gnomAD v2: 1-94467548-C-G
gnomAD v3: 1-94001992-C-G
gnomAD v4: 1-94001992-C-G
MyVariant Identifiers: chr1:g.94467548C>G (hg19) chr1:g.94001992C>G (hg38)
PubMed: PMID:9054934 PMID:10880298 PMID:16103129 PMID:20335603 PMID:23891399 PMID:23940504 PMID:28041643 PMID:28118664
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001992C>G , CM000663.2:g.94001992C>G GRCh38
NC_000001.10:g.94467548C>G , CM000663.1:g.94467548C>G GRCh37
NC_000001.9:g.94240136C>G NCBI36
NG_009073.1:g.124158G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.6148G>C MANE Select ENSP00000359245.3:p.Val2050Leu
ENST00000370225.3:c.6148G>C ENSP00000359245.3:p.Val2050Leu
ENST00000465352.1:n.564G>C
ENST00000536513.5:c.2524G>C ENSP00000439707.2:p.Val842Leu
NM_000350.2:c.6148G>C NP_000341.2:p.Val2050Leu
NM_000350.3:c.6148G>C MANE Select NP_000341.2:p.Val2050Leu
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