Canonical Allele Identifier: CA227162
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94031054C>T
GRCh37 chr1:g.94496610C>T
Revel Score:
ENST00000546054 0.663
ENST00000370225 (MANE Select) 0.663
gnomAD v2:
1:94496610 C / T
gnomAD v3:
1:94031054 C / T
gnomAD v4:
chr1-94031054-C-T
Joint Max Group AF 0.00010394 (EAS)
Genomes Max Group AF 0.00000801 (AFR)
Exomes Max Group AF 0.00011816 (EAS)
ClinVar Allele:
105145
ClinVar RCV:
RCV000085609
RCV000132591
RCV003888473
ClinVar Variation:
99256
dbSNP:
62642573
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031054C>T , CM000663.2:g.94031054C>T GRCh38
NC_000001.10:g.94496610C>T , CM000663.1:g.94496610C>T GRCh37
NC_000001.9:g.94269198C>T NCBI36
NG_009073.1:g.95096G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4195G>A MANE Select ENSP00000359245.3:p.Glu1399Lys
ENST00000370225.3:c.4195G>A ENSP00000359245.3:p.Glu1399Lys
ENST00000536513.5:c.571G>A ENSP00000439707.2:p.Glu191Lys
NM_000350.2:c.4195G>A NP_000341.2:p.Glu1399Lys
NM_000350.3:c.4195G>A MANE Select NP_000341.2:p.Glu1399Lys
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