Canonical Allele Identifier: CA341277664
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2253673
ClinVar RCV Id: RCV002782440
MyVariant Identifiers: chr1:g.94522163C>G (hg19) chr1:g.94056607C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056607C>G , CM000663.2:g.94056607C>G GRCh38
NC_000001.10:g.94522163C>G , CM000663.1:g.94522163C>G GRCh37
NC_000001.9:g.94294751C>G NCBI36
NG_009073.1:g.69543G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2376G>C MANE Select ENSP00000359245.3:p.Lys792Asn
ENST00000649773.1:c.2161-1292G>C ENSP00000496882.1:n.2161-1292G>C
ENST00000370225.3:c.2376G>C ENSP00000359245.3:p.Lys792Asn
ENST00000536513.5:c.-65+6567G>C ENSP00000439707.2:n.-65+6567G>C
NM_000350.2:c.2376G>C NP_000341.2:p.Lys792Asn
NM_000350.3:c.2376G>C MANE Select NP_000341.2:p.Lys792Asn
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