Canonical Allele Identifier: CA341278550
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2079705
ClinVar RCV Id: RCV002998725
MyVariant Identifiers: chr1:g.94526157G>A (hg19) chr1:g.94060601G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060601G>A , CM000663.2:g.94060601G>A GRCh38
NC_000001.10:g.94526157G>A , CM000663.1:g.94526157G>A GRCh37
NC_000001.9:g.94298745G>A NCBI36
NG_009073.1:g.65549C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2096C>T MANE Select ENSP00000359245.3:p.Thr699Ile
ENST00000649773.1:c.2096C>T ENSP00000496882.1:p.Thr699Ile
ENST00000370225.3:c.2096C>T ENSP00000359245.3:p.Thr699Ile
ENST00000472033.1:n.216C>T
ENST00000536513.5:c.-65+2573C>T ENSP00000439707.2:n.-65+2573C>T
NM_000350.2:c.2096C>T NP_000341.2:p.Thr699Ile
NM_000350.3:c.2096C>T MANE Select NP_000341.2:p.Thr699Ile
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