Canonical Allele Identifier: CA226938
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99089
ClinVar RCV Id: RCV000085433
dbSNP Id: rs61752398
MyVariant Identifiers: chr1:g.94528248A>G (hg19) chr1:g.94062692A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062692A>G , CM000663.2:g.94062692A>G GRCh38
NC_000001.10:g.94528248A>G , CM000663.1:g.94528248A>G GRCh37
NC_000001.9:g.94300836A>G NCBI36
NG_009073.1:g.63458T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.1822T>C MANE Select ENSP00000359245.3:p.Phe608Leu
ENST00000649773.1:c.1822T>C ENSP00000496882.1:p.Phe608Leu
ENST00000370225.3:c.1822T>C ENSP00000359245.3:p.Phe608Leu
ENST00000536513.5:c.-65+482T>C ENSP00000439707.2:n.-65+482T>C
NM_000350.2:c.1822T>C NP_000341.2:p.Phe608Leu
NM_000350.3:c.1822T>C MANE Select NP_000341.2:p.Phe608Leu
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