Canonical Allele Identifier: CA957323
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 875687
ClinVar RCV Id: RCV001099765 RCV001416029
dbSNP Id: rs769863517
ExAC: 1:94481284 A / G
gnomAD v2: 1-94481284-A-G
gnomAD v3: 1-94015728-A-G
gnomAD v4: 1-94015728-A-G
MyVariant Identifiers: chr1:g.94481284A>G (hg19) chr1:g.94015728A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94015728A>G , CM000663.2:g.94015728A>G GRCh38
NC_000001.10:g.94481284A>G , CM000663.1:g.94481284A>G GRCh37
NC_000001.9:g.94253872A>G NCBI36
NG_009073.1:g.110422T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5312+11T>C MANE Select ENSP00000359245.3:n.5312+11T>C
ENST00000370225.3:c.5312+11T>C ENSP00000359245.3:n.5312+11T>C
ENST00000536513.5:c.1688+11T>C ENSP00000439707.2:n.1688+11T>C
NM_000350.2:c.5312+11T>C NP_000341.2:n.5312+11T>C
NM_000350.3:c.5312+11T>C MANE Select NP_000341.2:n.5312+11T>C
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