Canonical Allele Identifier: CA1181415386
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1660207997
gnomAD v4: 1-94031709-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031709C>T , CM000663.2:g.94031709C>T GRCh38
NC_000001.10:g.94497265C>T , CM000663.1:g.94497265C>T GRCh37
NC_000001.9:g.94269853C>T NCBI36
NG_009073.1:g.94441G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4128+69G>A MANE Select ENSP00000359245.3:n.4128+69G>A
ENST00000370225.3:c.4128+69G>A ENSP00000359245.3:n.4128+69G>A
ENST00000536513.5:c.504+69G>A ENSP00000439707.2:n.504+69G>A
NM_000350.2:c.4128+69G>A NP_000341.2:n.4128+69G>A
NM_000350.3:c.4128+69G>A MANE Select NP_000341.2:n.4128+69G>A