Canonical Allele Identifier: CA341279484
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 801518
dbSNP Id: rs1557787473
gnomAD v4: 1-94062668-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062668C>T , CM000663.2:g.94062668C>T GRCh38
NC_000001.10:g.94528224C>T , CM000663.1:g.94528224C>T GRCh37
NC_000001.9:g.94300812C>T NCBI36
NG_009073.1:g.63482G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1846G>A MANE Select ENSP00000359245.3:p.Glu616Lys
ENST00000649773.1:c.1846G>A ENSP00000496882.1:p.Glu616Lys
ENST00000370225.3:c.1846G>A ENSP00000359245.3:p.Glu616Lys
ENST00000536513.5:c.-65+506G>A ENSP00000439707.2:n.-65+506G>A
NM_000350.2:c.1846G>A NP_000341.2:p.Glu616Lys
NM_000350.3:c.1846G>A MANE Select NP_000341.2:p.Glu616Lys