Canonical Allele Identifier: CA957241
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94011368G>A
GRCh37 chr1:g.94476924G>A
gnomAD v2:
1:94476924 G / A
gnomAD v3:
1:94011368 G / A
gnomAD v4:
chr1-94011368-G-A
Joint Max Group AF 0.00002549 (AFR)
Genomes Max Group AF 0.00003762 (NFE)
Exomes Max Group AF 0.00001543 (NFE)
ClinVar RCV:
RCV000408453
RCV001854786
ClinVar Variation:
236132
dbSNP:
762632312
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94011368G>A , CM000663.2:g.94011368G>A GRCh38
NC_000001.10:g.94476924G>A , CM000663.1:g.94476924G>A GRCh37
NC_000001.9:g.94249512G>A NCBI36
NG_009073.1:g.114782C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5478C>T MANE Select ENSP00000359245.3:p.Asn1826=
ENST00000370225.3:c.5478C>T ENSP00000359245.3:p.Asn1826=
ENST00000536513.5:c.1854C>T ENSP00000439707.2:p.Asn618=
NM_000350.2:c.5478C>T NP_000341.2:p.Asn1826=
NM_000350.3:c.5478C>T MANE Select NP_000341.2:p.Asn1826=
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