Canonical Allele Identifier: CA958058
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 866615
ClinVar RCV Id: RCV001074759 RCV002069580
dbSNP Id: rs375804885
ExAC: 1:94509050 G / C
gnomAD v2: 1-94509050-G-C
gnomAD v3: 1-94043494-G-C
gnomAD v4: 1-94043494-G-C
MyVariant Identifiers: chr1:g.94509050G>C (hg19) chr1:g.94043494G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043494G>C , CM000663.2:g.94043494G>C GRCh38
NC_000001.10:g.94509050G>C , CM000663.1:g.94509050G>C GRCh37
NC_000001.9:g.94281638G>C NCBI36
NG_009073.1:g.82656C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3051-19C>G MANE Select ENSP00000359245.3:n.3051-19C>G
ENST00000370225.3:c.3051-19C>G ENSP00000359245.3:n.3051-19C>G
ENST00000536513.5:c.-64-3405C>G ENSP00000439707.2:n.-64-3405C>G
NM_000350.2:c.3051-19C>G NP_000341.2:n.3051-19C>G
NM_000350.3:c.3051-19C>G MANE Select NP_000341.2:n.3051-19C>G
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