Canonical Allele Identifier: CA341276351
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-93997923-G-A
MyVariant Identifiers: chr1:g.94463479G>A (hg19) chr1:g.93997923G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997923G>A , CM000663.2:g.93997923G>A GRCh38
NC_000001.10:g.94463479G>A , CM000663.1:g.94463479G>A GRCh37
NC_000001.9:g.94236067G>A NCBI36
NG_009073.1:g.128227C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6667C>T MANE Select ENSP00000359245.3:p.Leu2223Phe
ENST00000370225.3:c.6667C>T ENSP00000359245.3:p.Leu2223Phe
ENST00000536513.5:c.3043C>T ENSP00000439707.2:p.Leu1015Phe
NM_000350.2:c.6667C>T NP_000341.2:p.Leu2223Phe
NM_000350.3:c.6667C>T MANE Select NP_000341.2:p.Leu2223Phe
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