Canonical Allele Identifier: CA1181398475
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1659192068
gnomAD v4: 1-94001835-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001835G>A , CM000663.2:g.94001835G>A GRCh38
NC_000001.10:g.94467391G>A , CM000663.1:g.94467391G>A GRCh37
NC_000001.9:g.94239979G>A NCBI36
NG_009073.1:g.124315C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6282+23C>T MANE Select ENSP00000359245.3:n.6282+23C>T
ENST00000370225.3:c.6282+23C>T ENSP00000359245.3:n.6282+23C>T
ENST00000465352.1:n.721C>T
ENST00000536513.5:c.2658+23C>T ENSP00000439707.2:n.2658+23C>T
NM_000350.2:c.6282+23C>T NP_000341.2:n.6282+23C>T
NM_000350.3:c.6282+23C>T MANE Select NP_000341.2:n.6282+23C>T