Canonical Allele Identifier: CA341276302
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-93997901-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997901A>C , CM000663.2:g.93997901A>C GRCh38
NC_000001.10:g.94463457A>C , CM000663.1:g.94463457A>C GRCh37
NC_000001.9:g.94236045A>C NCBI36
NG_009073.1:g.128249T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6689T>G MANE Select ENSP00000359245.3:p.Leu2230Arg
ENST00000370225.3:c.6689T>G ENSP00000359245.3:p.Leu2230Arg
ENST00000536513.5:c.3065T>G ENSP00000439707.2:p.Leu1022Arg
NM_000350.2:c.6689T>G NP_000341.2:p.Leu2230Arg
NM_000350.3:c.6689T>G MANE Select NP_000341.2:p.Leu2230Arg