Canonical Allele Identifier: CA341284850
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94495046C>G (hg19) chr1:g.94029490C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029490C>G , CM000663.2:g.94029490C>G GRCh38
NC_000001.10:g.94495046C>G , CM000663.1:g.94495046C>G GRCh37
NC_000001.9:g.94267634C>G NCBI36
NG_009073.1:g.96660G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4494G>C MANE Select ENSP00000359245.3:p.Met1498Ile
ENST00000370225.3:c.4494G>C ENSP00000359245.3:p.Met1498Ile
ENST00000536513.5:c.870G>C ENSP00000439707.2:p.Met290Ile
NM_000350.2:c.4494G>C NP_000341.2:p.Met1498Ile
NM_000350.3:c.4494G>C MANE Select NP_000341.2:p.Met1498Ile
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