Canonical Allele Identifier: CA418821521
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94526192T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060636T>C , CM000663.2:g.94060636T>C GRCh38
NC_000001.10:g.94526192T>C , CM000663.1:g.94526192T>C GRCh37
NC_000001.9:g.94298780T>C NCBI36
NG_009073.1:g.65514A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2061A>G MANE Select ENSP00000359245.3:p.Lys687=
ENST00000649773.1:c.2061A>G ENSP00000496882.1:p.Lys687=
ENST00000370225.3:c.2061A>G ENSP00000359245.3:p.Lys687=
ENST00000472033.1:n.181A>G
ENST00000536513.5:c.-65+2538A>G ENSP00000439707.2:n.-65+2538A>G
NM_000350.2:c.2061A>G NP_000341.2:p.Lys687=
NM_000350.3:c.2061A>G MANE Select NP_000341.2:p.Lys687=
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