Canonical Allele Identifier: CA10581652
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 236515
ClinVar RCV Id: RCV000225610 RCV003556289
dbSNP Id: rs878853396
gnomAD v4: 1-94062641-G-A
MyVariant Identifiers: chr1:g.94528197G>A (hg19) chr1:g.94062641G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062641G>A , CM000663.2:g.94062641G>A GRCh38
NC_000001.10:g.94528197G>A , CM000663.1:g.94528197G>A GRCh37
NC_000001.9:g.94300785G>A NCBI36
NG_009073.1:g.63509C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1873C>T MANE Select ENSP00000359245.3:p.Gln625Ter
ENST00000649773.1:c.1873C>T ENSP00000496882.1:p.Gln625Ter
ENST00000370225.3:c.1873C>T ENSP00000359245.3:p.Gln625Ter
ENST00000536513.5:c.-65+533C>T ENSP00000439707.2:n.-65+533C>T
NM_000350.2:c.1873C>T NP_000341.2:p.Gln625Ter
NM_000350.3:c.1873C>T MANE Select NP_000341.2:p.Gln625Ter
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