Canonical Allele Identifier: CA2696564295
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs2101036620

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031678T>C , CM000663.2:g.94031678T>C GRCh38
NC_000001.10:g.94497234T>C , CM000663.1:g.94497234T>C GRCh37
NC_000001.9:g.94269822T>C NCBI36
NG_009073.1:g.94472A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4128+100A>G MANE Select ENSP00000359245.3:n.4128+100A>G
ENST00000370225.3:c.4128+100A>G ENSP00000359245.3:n.4128+100A>G
ENST00000536513.5:c.504+100A>G ENSP00000439707.2:n.504+100A>G
NM_000350.2:c.4128+100A>G NP_000341.2:n.4128+100A>G
NM_000350.3:c.4128+100A>G MANE Select NP_000341.2:n.4128+100A>G