Canonical Allele Identifier: CA341284039
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94021935-T-A
MyVariant Identifiers: chr1:g.94487491T>A (hg19) chr1:g.94021935T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021935T>A , CM000663.2:g.94021935T>A GRCh38
NC_000001.10:g.94487491T>A , CM000663.1:g.94487491T>A GRCh37
NC_000001.9:g.94260079T>A NCBI36
NG_009073.1:g.104215A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4684A>T MANE Select ENSP00000359245.3:p.Ile1562Phe
ENST00000370225.3:c.4684A>T ENSP00000359245.3:p.Ile1562Phe
ENST00000460514.1:n.178A>T
ENST00000536513.5:c.1060A>T ENSP00000439707.2:p.Ile354Phe
NM_000350.2:c.4684A>T NP_000341.2:p.Ile1562Phe
NM_000350.3:c.4684A>T MANE Select NP_000341.2:p.Ile1562Phe
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