Canonical Allele Identifier: CA341284846
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1660137363
MyVariant Identifiers: chr1:g.94495044A>T (hg19) chr1:g.94029488A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029488A>T , CM000663.2:g.94029488A>T GRCh38
NC_000001.10:g.94495044A>T , CM000663.1:g.94495044A>T GRCh37
NC_000001.9:g.94267632A>T NCBI36
NG_009073.1:g.96662T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4496T>A MANE Select ENSP00000359245.3:p.Leu1499Gln
ENST00000370225.3:c.4496T>A ENSP00000359245.3:p.Leu1499Gln
ENST00000536513.5:c.872T>A ENSP00000439707.2:p.Leu291Gln
NM_000350.2:c.4496T>A NP_000341.2:p.Leu1499Gln
NM_000350.3:c.4496T>A MANE Select NP_000341.2:p.Leu1499Gln
Search 100 bp 5'
Search 100 bp 3'