Canonical Allele Identifier: CA2646646884
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2845381
ClinVar RCV Id: RCV003695269
gnomAD v4: 1-94015729-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94015729A>C , CM000663.2:g.94015729A>C GRCh38
NC_000001.10:g.94481285A>C , CM000663.1:g.94481285A>C GRCh37
NC_000001.9:g.94253873A>C NCBI36
NG_009073.1:g.110421T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5312+10T>G MANE Select ENSP00000359245.3:n.5312+10T>G
ENST00000370225.3:c.5312+10T>G ENSP00000359245.3:n.5312+10T>G
ENST00000536513.5:c.1688+10T>G ENSP00000439707.2:n.1688+10T>G
NM_000350.2:c.5312+10T>G NP_000341.2:n.5312+10T>G
NM_000350.3:c.5312+10T>G MANE Select NP_000341.2:n.5312+10T>G
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