Canonical Allele Identifier: CA958354
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 969672
ClinVar RCV Id: RCV001245070
dbSNP Id: rs781359355
ExAC: 1:94526147 C / T
gnomAD v2: 1-94526147-C-T
gnomAD v3: 1-94060591-C-T
gnomAD v4: 1-94060591-C-T
MyVariant Identifiers: chr1:g.94526147C>T (hg19) chr1:g.94060591C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060591C>T , CM000663.2:g.94060591C>T GRCh38
NC_000001.10:g.94526147C>T , CM000663.1:g.94526147C>T GRCh37
NC_000001.9:g.94298735C>T NCBI36
NG_009073.1:g.65559G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2106G>A MANE Select ENSP00000359245.3:p.Leu702=
ENST00000649773.1:c.2106G>A ENSP00000496882.1:p.Leu702=
ENST00000370225.3:c.2106G>A ENSP00000359245.3:p.Leu702=
ENST00000472033.1:n.226G>A
ENST00000536513.5:c.-65+2583G>A ENSP00000439707.2:n.-65+2583G>A
NM_000350.2:c.2106G>A NP_000341.2:p.Leu702=
NM_000350.3:c.2106G>A MANE Select NP_000341.2:p.Leu702=
Search 100 bp 5'
Search 100 bp 3'