Canonical Allele Identifier: CA341278699
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2705305
ClinVar RCV Id: RCV003575336
MyVariant Identifiers: chr1:g.94526224C>G (hg19) chr1:g.94060668C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060668C>G , CM000663.2:g.94060668C>G GRCh38
NC_000001.10:g.94526224C>G , CM000663.1:g.94526224C>G GRCh37
NC_000001.9:g.94298812C>G NCBI36
NG_009073.1:g.65482G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2029G>C MANE Select ENSP00000359245.3:p.Glu677Gln
ENST00000649773.1:c.2029G>C ENSP00000496882.1:p.Glu677Gln
ENST00000370225.3:c.2029G>C ENSP00000359245.3:p.Glu677Gln
ENST00000472033.1:n.149G>C
ENST00000536513.5:c.-65+2506G>C ENSP00000439707.2:n.-65+2506G>C
NM_000350.2:c.2029G>C NP_000341.2:p.Glu677Gln
NM_000350.3:c.2029G>C MANE Select NP_000341.2:p.Glu677Gln
Search 100 bp 5'
Search 100 bp 3'