Canonical Allele Identifier: CA958052
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 289310
dbSNP Id: rs201855602
gnomAD v2: 1-94509026-G-A
gnomAD v3: 1-94043470-G-A
gnomAD v4: 1-94043470-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043470G>A , CM000663.2:g.94043470G>A GRCh38
NC_000001.10:g.94509026G>A , CM000663.1:g.94509026G>A GRCh37
NC_000001.9:g.94281614G>A NCBI36
NG_009073.1:g.82680C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3056C>T MANE Select ENSP00000359245.3:p.Thr1019Met
ENST00000370225.3:c.3056C>T ENSP00000359245.3:p.Thr1019Met
ENST00000536513.5:c.-64-3381C>T ENSP00000439707.2:n.-64-3381C>T
NM_000350.2:c.3056C>T NP_000341.2:p.Thr1019Met
NM_000350.3:c.3056C>T MANE Select NP_000341.2:p.Thr1019Met