Canonical Allele Identifier: CA957583
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1328500
ClinVar RCV Id: RCV001796944
dbSNP Id: rs61750150
ExAC: 1:94495005 G / A
gnomAD v4: 1-94029449-G-A
MyVariant Identifiers: chr1:g.94495005G>A (hg19) chr1:g.94029449G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4535C>T MANE Select ENSP00000359245.3:p.Pro1512Leu
ENST00000370225.3:c.4535C>T ENSP00000359245.3:p.Pro1512Leu
ENST00000536513.5:c.911C>T ENSP00000439707.2:p.Pro304Leu
NM_000350.2:c.4535C>T NP_000341.2:p.Pro1512Leu
NM_000350.3:c.4535C>T MANE Select NP_000341.2:p.Pro1512Leu
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