Canonical Allele Identifier: CA341278648
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94060645-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060645C>G , CM000663.2:g.94060645C>G GRCh38
NC_000001.10:g.94526201C>G , CM000663.1:g.94526201C>G GRCh37
NC_000001.9:g.94298789C>G NCBI36
NG_009073.1:g.65505G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2052G>C MANE Select ENSP00000359245.3:p.Glu684Asp
ENST00000649773.1:c.2052G>C ENSP00000496882.1:p.Glu684Asp
ENST00000370225.3:c.2052G>C ENSP00000359245.3:p.Glu684Asp
ENST00000472033.1:n.172G>C
ENST00000536513.5:c.-65+2529G>C ENSP00000439707.2:n.-65+2529G>C
NM_000350.2:c.2052G>C NP_000341.2:p.Glu684Asp
NM_000350.3:c.2052G>C MANE Select NP_000341.2:p.Glu684Asp