Canonical Allele Identifier: CA26854479
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs947128208
MyVariant Identifiers: chr1:g.94496028A>G (hg19) chr1:g.94030472A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030472A>G , CM000663.2:g.94030472A>G GRCh38
NC_000001.10:g.94496028A>G , CM000663.1:g.94496028A>G GRCh37
NC_000001.9:g.94268616A>G NCBI36
NG_009073.1:g.95678T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4308T>C MANE Select ENSP00000359245.3:p.Asn1436=
ENST00000370225.3:c.4308T>C ENSP00000359245.3:p.Asn1436=
ENST00000536513.5:c.684T>C ENSP00000439707.2:p.Asn228=
NM_000350.2:c.4308T>C NP_000341.2:p.Asn1436=
NM_000350.3:c.4308T>C MANE Select NP_000341.2:p.Asn1436=
Search 100 bp 5'
Search 100 bp 3'