Canonical Allele Identifier: CA341275306
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1660700215
MyVariant Identifiers: chr1:g.94512487T>C (hg19) chr1:g.94046931T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046931T>C , CM000663.2:g.94046931T>C GRCh38
NC_000001.10:g.94512487T>C , CM000663.1:g.94512487T>C GRCh37
NC_000001.9:g.94285075T>C NCBI36
NG_009073.1:g.79219A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2906A>G MANE Select ENSP00000359245.3:p.Lys969Arg
ENST00000649773.1:c.2684A>G ENSP00000496882.1:p.Lys895Arg
ENST00000370225.3:c.2906A>G ENSP00000359245.3:p.Lys969Arg
ENST00000536513.5:c.-64-6842A>G ENSP00000439707.2:n.-64-6842A>G
NM_000350.2:c.2906A>G NP_000341.2:p.Lys969Arg
NM_000350.3:c.2906A>G MANE Select NP_000341.2:p.Lys969Arg
Search 100 bp 5'
Search 100 bp 3'