Canonical Allele Identifier: CA341275683
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94461673G>A (hg19) chr1:g.93996117G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93996117G>A , CM000663.2:g.93996117G>A GRCh38
NC_000001.10:g.94461673G>A , CM000663.1:g.94461673G>A GRCh37
NC_000001.9:g.94234261G>A NCBI36
NG_009073.1:g.130033C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6808C>T MANE Select ENSP00000359245.3:p.Gln2270Ter
ENST00000370225.3:c.6808C>T ENSP00000359245.3:p.Gln2270Ter
ENST00000536513.5:c.3184C>T ENSP00000439707.2:p.Gln1062Ter
NM_000350.2:c.6808C>T NP_000341.2:p.Gln2270Ter
NM_000350.3:c.6808C>T MANE Select NP_000341.2:p.Gln2270Ter
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