Canonical Allele Identifier: CA227439
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99487
ClinVar RCV Id: RCV000085848 RCV001075235 RCV003324515
dbSNP Id: rs61748521
ExAC: 1:94463425 G / C
gnomAD v2: 1-94463425-G-C
gnomAD v3: 1-93997869-G-C
gnomAD v4: 1-93997869-G-C
MyVariant Identifiers: chr1:g.94463425G>C (hg19) chr1:g.93997869G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997869G>C , CM000663.2:g.93997869G>C GRCh38
NC_000001.10:g.94463425G>C , CM000663.1:g.94463425G>C GRCh37
NC_000001.9:g.94236013G>C NCBI36
NG_009073.1:g.128281C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6721C>G MANE Select ENSP00000359245.3:p.Leu2241Val
ENST00000370225.3:c.6721C>G ENSP00000359245.3:p.Leu2241Val
ENST00000536513.5:c.3097C>G ENSP00000439707.2:p.Leu1033Val
NM_000350.2:c.6721C>G NP_000341.2:p.Leu2241Val
NM_000350.3:c.6721C>G MANE Select NP_000341.2:p.Leu2241Val
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