Canonical Allele Identifier: CA341276283
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1692998
ClinVar RCV Id: RCV002259425
dbSNP Id: rs2100987881
MyVariant Identifiers: chr1:g.94463448T>A (hg19) chr1:g.93997892T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997892T>A , CM000663.2:g.93997892T>A GRCh38
NC_000001.10:g.94463448T>A , CM000663.1:g.94463448T>A GRCh37
NC_000001.9:g.94236036T>A NCBI36
NG_009073.1:g.128258A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6698A>T MANE Select ENSP00000359245.3:p.Glu2233Val
ENST00000370225.3:c.6698A>T ENSP00000359245.3:p.Glu2233Val
ENST00000536513.5:c.3074A>T ENSP00000439707.2:p.Glu1025Val
NM_000350.2:c.6698A>T NP_000341.2:p.Glu2233Val
NM_000350.3:c.6698A>T MANE Select NP_000341.2:p.Glu2233Val
Search 100 bp 5'
Search 100 bp 3'