Canonical Allele Identifier: CA341276334
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-93997915-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997915G>C , CM000663.2:g.93997915G>C GRCh38
NC_000001.10:g.94463471G>C , CM000663.1:g.94463471G>C GRCh37
NC_000001.9:g.94236059G>C NCBI36
NG_009073.1:g.128235C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6675C>G MANE Select ENSP00000359245.3:p.His2225Gln
ENST00000370225.3:c.6675C>G ENSP00000359245.3:p.His2225Gln
ENST00000536513.5:c.3051C>G ENSP00000439707.2:p.His1017Gln
NM_000350.2:c.6675C>G NP_000341.2:p.His2225Gln
NM_000350.3:c.6675C>G MANE Select NP_000341.2:p.His2225Gln