Canonical Allele Identifier: CA958415
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2733940
ClinVar RCV Id: RCV003562268
dbSNP Id: rs760735952
ExAC: 1:94528238 A / G
gnomAD v2: 1-94528238-A-G
MyVariant Identifiers: chr1:g.94528238A>G (hg19) chr1:g.94062682A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062682A>G , CM000663.2:g.94062682A>G GRCh38
NC_000001.10:g.94528238A>G , CM000663.1:g.94528238A>G GRCh37
NC_000001.9:g.94300826A>G NCBI36
NG_009073.1:g.63468T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1832T>C MANE Select ENSP00000359245.3:p.Leu611Pro
ENST00000649773.1:c.1832T>C ENSP00000496882.1:p.Leu611Pro
ENST00000370225.3:c.1832T>C ENSP00000359245.3:p.Leu611Pro
ENST00000536513.5:c.-65+492T>C ENSP00000439707.2:n.-65+492T>C
NM_000350.2:c.1832T>C NP_000341.2:p.Leu611Pro
NM_000350.3:c.1832T>C MANE Select NP_000341.2:p.Leu611Pro
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