Canonical Allele Identifier: CA341277910
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1715624
ClinVar RCV Id: RCV002301374
MyVariant Identifiers: chr1:g.94522281G>T (hg19) chr1:g.94056725G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056725G>T , CM000663.2:g.94056725G>T GRCh38
NC_000001.10:g.94522281G>T , CM000663.1:g.94522281G>T GRCh37
NC_000001.9:g.94294869G>T NCBI36
NG_009073.1:g.69425C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2258C>A MANE Select ENSP00000359245.3:p.Thr753Asn
ENST00000649773.1:c.2161-1410C>A ENSP00000496882.1:n.2161-1410C>A
ENST00000370225.3:c.2258C>A ENSP00000359245.3:p.Thr753Asn
ENST00000536513.5:c.-65+6449C>A ENSP00000439707.2:n.-65+6449C>A
NM_000350.2:c.2258C>A NP_000341.2:p.Thr753Asn
NM_000350.3:c.2258C>A MANE Select NP_000341.2:p.Thr753Asn
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