Canonical Allele Identifier: CA232811
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94078652C>T
GRCh37 chr1:g.94544208C>T
Revel Score:
ENST00000370225 (MANE Select) 0.660
ENST00000535735 0.660
gnomAD v2:
1:94544208 C / T
gnomAD v3:
1:94078652 C / T
gnomAD v4:
chr1-94078652-C-T
Joint Max Group AF 0.00409564 (EAS)
Genomes Max Group AF 0.002179 (EAS)
Exomes Max Group AF 0.00420574 (EAS)
ClinVar RCV:
RCV000132584
RCV000490464
ClinVar Variation:
143072
dbSNP:
201117452
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94078652C>T , CM000663.2:g.94078652C>T GRCh38
NC_000001.10:g.94544208C>T , CM000663.1:g.94544208C>T GRCh37
NC_000001.9:g.94316796C>T NCBI36
NG_009073.1:g.47498G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1294G>A MANE Select ENSP00000359245.3:p.Glu432Lys
ENST00000649773.1:c.1294G>A ENSP00000496882.1:p.Glu432Lys
ENST00000370225.3:c.1294G>A ENSP00000359245.3:p.Glu432Lys
NM_000350.2:c.1294G>A NP_000341.2:p.Glu432Lys
NM_000350.3:c.1294G>A MANE Select NP_000341.2:p.Glu432Lys
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