Canonical Allele Identifier: CA26854807
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1231885
ClinVar RCV Id: RCV001612649
dbSNP Id: rs56253197
gnomAD v2: 1-94496446-T-C
gnomAD v3: 1-94030890-T-C
gnomAD v4: 1-94030890-T-C
MyVariant Identifiers: chr1:g.94496446T>C (hg19) chr1:g.94030890T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030890T>C , CM000663.2:g.94030890T>C GRCh38
NC_000001.10:g.94496446T>C , CM000663.1:g.94496446T>C GRCh37
NC_000001.9:g.94269034T>C NCBI36
NG_009073.1:g.95260A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4253+106A>G MANE Select ENSP00000359245.3:n.4253+106A>G
ENST00000370225.3:c.4253+106A>G ENSP00000359245.3:n.4253+106A>G
ENST00000536513.5:c.629+106A>G ENSP00000439707.2:n.629+106A>G
NM_000350.2:c.4253+106A>G NP_000341.2:n.4253+106A>G
NM_000350.3:c.4253+106A>G MANE Select NP_000341.2:n.4253+106A>G
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