Canonical Allele Identifier: CA341291301
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1213878
ClinVar RCV Id: RCV001591820
dbSNP Id: rs2101048742
MyVariant Identifiers: chr1:g.94506938T>G (hg19) chr1:g.94041382T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041382T>G , CM000663.2:g.94041382T>G GRCh38
NC_000001.10:g.94506938T>G , CM000663.1:g.94506938T>G GRCh37
NC_000001.9:g.94279526T>G NCBI36
NG_009073.1:g.84768A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3349A>C MANE Select ENSP00000359245.3:p.Thr1117Pro
ENST00000370225.3:c.3349A>C ENSP00000359245.3:p.Thr1117Pro
ENST00000536513.5:c.-64-1293A>C ENSP00000439707.2:n.-64-1293A>C
NM_000350.2:c.3349A>C NP_000341.2:p.Thr1117Pro
NM_000350.3:c.3349A>C MANE Select NP_000341.2:p.Thr1117Pro
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