Canonical Allele Identifier: CA957584
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 837214
ClinVar RCV Id: RCV001038496
dbSNP Id: rs61750150
ExAC: 1:94495005 G / T
gnomAD v2: 1-94495005-G-T
gnomAD v3: 1-94029449-G-T
gnomAD v4: 1-94029449-G-T
MyVariant Identifiers: chr1:g.94495005G>T (hg19) chr1:g.94029449G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029449G>T , CM000663.2:g.94029449G>T GRCh38
NC_000001.10:g.94495005G>T , CM000663.1:g.94495005G>T GRCh37
NC_000001.9:g.94267593G>T NCBI36
NG_009073.1:g.96701C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4535C>A MANE Select ENSP00000359245.3:p.Pro1512His
ENST00000370225.3:c.4535C>A ENSP00000359245.3:p.Pro1512His
ENST00000536513.5:c.911C>A ENSP00000439707.2:p.Pro304His
NM_000350.2:c.4535C>A NP_000341.2:p.Pro1512His
NM_000350.3:c.4535C>A MANE Select NP_000341.2:p.Pro1512His
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