Canonical Allele Identifier: CA341286450
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 957256
ClinVar RCV Id: RCV001230206
dbSNP Id: rs1660189911
gnomAD v4: 1-94031104-G-A
MyVariant Identifiers: chr1:g.94496660G>A (hg19) chr1:g.94031104G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031104G>A , CM000663.2:g.94031104G>A GRCh38
NC_000001.10:g.94496660G>A , CM000663.1:g.94496660G>A GRCh37
NC_000001.9:g.94269248G>A NCBI36
NG_009073.1:g.95046C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4145C>T MANE Select ENSP00000359245.3:p.Thr1382Ile
ENST00000370225.3:c.4145C>T ENSP00000359245.3:p.Thr1382Ile
ENST00000536513.5:c.521C>T ENSP00000439707.2:p.Thr174Ile
NM_000350.2:c.4145C>T NP_000341.2:p.Thr1382Ile
NM_000350.3:c.4145C>T MANE Select NP_000341.2:p.Thr1382Ile
Search 100 bp 5'
Search 100 bp 3'