Canonical Allele Identifier: CA524384000
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs905698247
gnomAD v2: 1-94496342-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030786C>G , CM000663.2:g.94030786C>G GRCh38
NC_000001.10:g.94496342C>G , CM000663.1:g.94496342C>G GRCh37
NC_000001.9:g.94268930C>G NCBI36
NG_009073.1:g.95364G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4253+210G>C MANE Select ENSP00000359245.3:n.4253+210G>C
ENST00000370225.3:c.4253+210G>C ENSP00000359245.3:n.4253+210G>C
ENST00000536513.5:c.629+210G>C ENSP00000439707.2:n.629+210G>C
NM_000350.2:c.4253+210G>C NP_000341.2:n.4253+210G>C
NM_000350.3:c.4253+210G>C MANE Select NP_000341.2:n.4253+210G>C