Canonical Allele Identifier: CA16617208
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 417986
ClinVar RCV Id: RCV000486062
dbSNP Id: rs1064793009

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043491A>T , CM000663.2:g.94043491A>T GRCh38
NC_000001.10:g.94509047A>T , CM000663.1:g.94509047A>T GRCh37
NC_000001.9:g.94281635A>T NCBI36
NG_009073.1:g.82659T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.3051-16T>A MANE Select ENSP00000359245.3:n.3051-16T>A
ENST00000370225.3:c.3051-16T>A ENSP00000359245.3:n.3051-16T>A
ENST00000536513.5:c.-64-3402T>A ENSP00000439707.2:n.-64-3402T>A
NM_000350.2:c.3051-16T>A NP_000341.2:n.3051-16T>A
NM_000350.3:c.3051-16T>A MANE Select NP_000341.2:n.3051-16T>A