Canonical Allele Identifier: CA226973
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99114
ClinVar RCV Id: RCV000085458 RCV000210310 RCV000408512 RCV000504983 RCV001073628 RCV001195987
dbSNP Id: rs61749423
ExAC: 1:94526212 G / A
gnomAD v2: 1-94526212-G-A
gnomAD v3: 1-94060656-G-A
gnomAD v4: 1-94060656-G-A
MyVariant Identifiers: chr1:g.94526212G>A (hg19) chr1:g.94060656G>A (hg38)
PubMed: PMID:10090887 PMID:19074458 PMID:24342785 PMID:24713488 PMID:25525159 PMID:25544989 PMID:26872967 PMID:28041643 PMID:28118664
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060656G>A , CM000663.2:g.94060656G>A GRCh38
NC_000001.10:g.94526212G>A , CM000663.1:g.94526212G>A GRCh37
NC_000001.9:g.94298800G>A NCBI36
NG_009073.1:g.65494C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2041C>T MANE Select ENSP00000359245.3:p.Arg681Ter
ENST00000649773.1:c.2041C>T ENSP00000496882.1:p.Arg681Ter
ENST00000370225.3:c.2041C>T ENSP00000359245.3:p.Arg681Ter
ENST00000472033.1:n.161C>T
ENST00000536513.5:c.-65+2518C>T ENSP00000439707.2:n.-65+2518C>T
NM_000350.2:c.2041C>T NP_000341.2:p.Arg681Ter
NM_000350.3:c.2041C>T MANE Select NP_000341.2:p.Arg681Ter
Search 100 bp 5'
Search 100 bp 3'