Canonical Allele Identifier: CA916082056
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 860769
ClinVar RCV Id: RCV001067139
dbSNP Id: rs1659900066
gnomAD v3: 1-94021636-G-A
gnomAD v4: 1-94021636-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021636G>A , CM000663.2:g.94021636G>A GRCh38
NC_000001.10:g.94487192G>A , CM000663.1:g.94487192G>A GRCh37
NC_000001.9:g.94259780G>A NCBI36
NG_009073.1:g.104514C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4848+4C>T MANE Select ENSP00000359245.3:n.4848+4C>T
ENST00000370225.3:c.4848+4C>T ENSP00000359245.3:n.4848+4C>T
ENST00000460514.1:n.342+4C>T
ENST00000536513.5:c.1224+4C>T ENSP00000439707.2:n.1224+4C>T
NM_000350.2:c.4848+4C>T NP_000341.2:n.4848+4C>T
NM_000350.3:c.4848+4C>T MANE Select NP_000341.2:n.4848+4C>T
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