Canonical Allele Identifier: CA227432
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99481
ClinVar RCV Id: RCV000085842 RCV001075761
dbSNP Id: rs61750659
ExAC: 1:94463460 A / G
gnomAD v2: 1-94463460-A-G
gnomAD v3: 1-93997904-A-G
gnomAD v4: 1-93997904-A-G
MyVariant Identifiers: chr1:g.94463460A>G (hg19) chr1:g.93997904A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997904A>G , CM000663.2:g.93997904A>G GRCh38
NC_000001.10:g.94463460A>G , CM000663.1:g.94463460A>G GRCh37
NC_000001.9:g.94236048A>G NCBI36
NG_009073.1:g.128246T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6686T>C MANE Select ENSP00000359245.3:p.Leu2229Pro
ENST00000370225.3:c.6686T>C ENSP00000359245.3:p.Leu2229Pro
ENST00000536513.5:c.3062T>C ENSP00000439707.2:p.Leu1021Pro
NM_000350.2:c.6686T>C NP_000341.2:p.Leu2229Pro
NM_000350.3:c.6686T>C MANE Select NP_000341.2:p.Leu2229Pro
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