Canonical Allele Identifier: CA418819680
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2721872
ClinVar RCV Id: RCV003556632
dbSNP Id: rs1274228304
gnomAD v2: 1-94481302-G-A
MyVariant Identifiers: chr1:g.94481302G>A (hg19) chr1:g.94015746G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94015746G>A , CM000663.2:g.94015746G>A GRCh38
NC_000001.10:g.94481302G>A , CM000663.1:g.94481302G>A GRCh37
NC_000001.9:g.94253890G>A NCBI36
NG_009073.1:g.110404C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5305C>T MANE Select ENSP00000359245.3:p.Leu1769=
ENST00000370225.3:c.5305C>T ENSP00000359245.3:p.Leu1769=
ENST00000536513.5:c.1681C>T ENSP00000439707.2:p.Leu561=
NM_000350.2:c.5305C>T NP_000341.2:p.Leu1769=
NM_000350.3:c.5305C>T MANE Select NP_000341.2:p.Leu1769=
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