Canonical Allele Identifier: CA418822235
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2030495
ClinVar RCV Id: RCV002898604
dbSNP Id: rs1249348439
gnomAD v3: 1-94062729-A-G
gnomAD v4: 1-94062729-A-G
MyVariant Identifiers: chr1:g.94528285A>G (hg19) chr1:g.94062729A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062729A>G , CM000663.2:g.94062729A>G GRCh38
NC_000001.10:g.94528285A>G , CM000663.1:g.94528285A>G GRCh37
NC_000001.9:g.94300873A>G NCBI36
NG_009073.1:g.63421T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1785T>C MANE Select ENSP00000359245.3:p.Ala595=
ENST00000649773.1:c.1785T>C ENSP00000496882.1:p.Ala595=
ENST00000370225.3:c.1785T>C ENSP00000359245.3:p.Ala595=
ENST00000536513.5:c.-65+445T>C ENSP00000439707.2:n.-65+445T>C
NM_000350.2:c.1785T>C NP_000341.2:p.Ala595=
NM_000350.3:c.1785T>C MANE Select NP_000341.2:p.Ala595=
Search 100 bp 5'
Search 100 bp 3'