Canonical Allele Identifier: CA227192
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99283
dbSNP Id: rs61750145
gnomAD v2: 1-94495083-G-A
gnomAD v3: 1-94029527-G-A
gnomAD v4: 1-94029527-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029527G>A , CM000663.2:g.94029527G>A GRCh38
NC_000001.10:g.94495083G>A , CM000663.1:g.94495083G>A GRCh37
NC_000001.9:g.94267671G>A NCBI36
NG_009073.1:g.96623C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4457C>T MANE Select ENSP00000359245.3:p.Pro1486Leu
ENST00000370225.3:c.4457C>T ENSP00000359245.3:p.Pro1486Leu
ENST00000536513.5:c.833C>T ENSP00000439707.2:p.Pro278Leu
NM_000350.2:c.4457C>T NP_000341.2:p.Pro1486Leu
NM_000350.3:c.4457C>T MANE Select NP_000341.2:p.Pro1486Leu