Canonical Allele Identifier: CA956971
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2976836
ClinVar RCV Id: RCV003838970
dbSNP Id: rs754029461
gnomAD v2: 1-94467394-C-G
gnomAD v3: 1-94001838-C-G
gnomAD v4: 1-94001838-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001838C>G , CM000663.2:g.94001838C>G GRCh38
NC_000001.10:g.94467394C>G , CM000663.1:g.94467394C>G GRCh37
NC_000001.9:g.94239982C>G NCBI36
NG_009073.1:g.124312G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6282+20G>C MANE Select ENSP00000359245.3:n.6282+20G>C
ENST00000370225.3:c.6282+20G>C ENSP00000359245.3:n.6282+20G>C
ENST00000465352.1:n.718G>C
ENST00000536513.5:c.2658+20G>C ENSP00000439707.2:n.2658+20G>C
NM_000350.2:c.6282+20G>C NP_000341.2:n.6282+20G>C
NM_000350.3:c.6282+20G>C MANE Select NP_000341.2:n.6282+20G>C