Canonical Allele Identifier: CA227425
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99476
ClinVar RCV Id: RCV000085837 RCV000408450 RCV000504742 RCV001352970 RCV003421986
dbSNP Id: rs61753046
ExAC: 1:94463488 G / A
gnomAD v2: 1-94463488-G-A
gnomAD v3: 1-93997932-G-A
gnomAD v4: 1-93997932-G-A
MyVariant Identifiers: chr1:g.94463488G>A (hg19) chr1:g.93997932G>A (hg38)
PubMed: PMID:10958761 PMID:22968130 PMID:23134348 PMID:25525159 PMID:28041643 PMID:28118664
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997932G>A , CM000663.2:g.93997932G>A GRCh38
NC_000001.10:g.94463488G>A , CM000663.1:g.94463488G>A GRCh37
NC_000001.9:g.94236076G>A NCBI36
NG_009073.1:g.128218C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.6658C>T MANE Select ENSP00000359245.3:p.Gln2220Ter
ENST00000370225.3:c.6658C>T ENSP00000359245.3:p.Gln2220Ter
ENST00000536513.5:c.3034C>T ENSP00000439707.2:p.Gln1012Ter
NM_000350.2:c.6658C>T NP_000341.2:p.Gln2220Ter
NM_000350.3:c.6658C>T MANE Select NP_000341.2:p.Gln2220Ter
Search 100 bp 5'
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