Canonical Allele Identifier: CA958362
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2960186
ClinVar RCV Id: RCV003814946
dbSNP Id: rs61749423
ExAC: 1:94526212 G / T
gnomAD v2: 1-94526212-G-T
gnomAD v3: 1-94060656-G-T
gnomAD v4: 1-94060656-G-T
MyVariant Identifiers: chr1:g.94526212G>T (hg19) chr1:g.94060656G>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2041C>A MANE Select ENSP00000359245.3:p.Arg681=
ENST00000649773.1:c.2041C>A ENSP00000496882.1:p.Arg681=
ENST00000370225.3:c.2041C>A ENSP00000359245.3:p.Arg681=
ENST00000472033.1:n.161C>A
ENST00000536513.5:c.-65+2518C>A ENSP00000439707.2:n.-65+2518C>A
NM_000350.2:c.2041C>A NP_000341.2:p.Arg681=
NM_000350.3:c.2041C>A MANE Select NP_000341.2:p.Arg681=
Search 100 bp 5'
Search 100 bp 3'