Canonical Allele Identifier: CA524384041
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1363918882
gnomAD v2: 1-94497270-G-A
gnomAD v3: 1-94031714-G-A
gnomAD v4: 1-94031714-G-A
MyVariant Identifiers: chr1:g.94497270G>A (hg19) chr1:g.94031714G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031714G>A , CM000663.2:g.94031714G>A GRCh38
NC_000001.10:g.94497270G>A , CM000663.1:g.94497270G>A GRCh37
NC_000001.9:g.94269858G>A NCBI36
NG_009073.1:g.94436C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4128+64C>T MANE Select ENSP00000359245.3:n.4128+64C>T
ENST00000370225.3:c.4128+64C>T ENSP00000359245.3:n.4128+64C>T
ENST00000536513.5:c.504+64C>T ENSP00000439707.2:n.504+64C>T
NM_000350.2:c.4128+64C>T NP_000341.2:n.4128+64C>T
NM_000350.3:c.4128+64C>T MANE Select NP_000341.2:n.4128+64C>T
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