Canonical Allele Identifier: CA10947930
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1198252
ClinVar RCV Id: RCV001562345
dbSNP Id: rs113931184
gnomAD v2: 1-94544807-A-T
gnomAD v3: 1-94079251-A-T
gnomAD v4: 1-94079251-A-T
MyVariant Identifiers: chr1:g.94544807A>T (hg19) chr1:g.94079251A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94079251A>T , CM000663.2:g.94079251A>T GRCh38
NC_000001.10:g.94544807A>T , CM000663.1:g.94544807A>T GRCh37
NC_000001.9:g.94317395A>T NCBI36
NG_009073.1:g.46899T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1239+71T>A MANE Select ENSP00000359245.3:n.1239+71T>A
ENST00000649773.1:c.1239+71T>A ENSP00000496882.1:n.1239+71T>A
ENST00000370225.3:c.1239+71T>A ENSP00000359245.3:n.1239+71T>A
NM_000350.2:c.1239+71T>A NP_000341.2:n.1239+71T>A
NM_000350.3:c.1239+71T>A MANE Select NP_000341.2:n.1239+71T>A
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