Canonical Allele Identifier: CA957690
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94031054C>A
GRCh37 chr1:g.94496610C>A
gnomAD v2:
1:94496610 C / A
gnomAD v3:
1:94031054 C / A
gnomAD v4:
chr1-94031054-C-A
Joint Max Group AF 0.00001773 (EAS)
Exomes Max Group AF 0.00000835 (EAS)
ClinVar RCV:
RCV000408552
RCV000778257
ClinVar Variation:
236109
dbSNP:
62642573
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4195G>T MANE Select ENSP00000359245.3:p.Glu1399Ter
ENST00000370225.3:c.4195G>T ENSP00000359245.3:p.Glu1399Ter
ENST00000536513.5:c.571G>T ENSP00000439707.2:p.Glu191Ter
NM_000350.2:c.4195G>T NP_000341.2:p.Glu1399Ter
NM_000350.3:c.4195G>T MANE Select NP_000341.2:p.Glu1399Ter
Search 100 bp 5'
Search 100 bp 3'