Canonical Allele Identifier: CA957663
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 298239
dbSNP Id: rs142673376
gnomAD v2: 1-94496080-A-G
gnomAD v3: 1-94030524-A-G
gnomAD v4: 1-94030524-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030524A>G , CM000663.2:g.94030524A>G GRCh38
NC_000001.10:g.94496080A>G , CM000663.1:g.94496080A>G GRCh37
NC_000001.9:g.94268668A>G NCBI36
NG_009073.1:g.95626T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4256T>C MANE Select ENSP00000359245.3:p.Met1419Thr
ENST00000370225.3:c.4256T>C ENSP00000359245.3:p.Met1419Thr
ENST00000536513.5:c.632T>C ENSP00000439707.2:p.Met211Thr
NM_000350.2:c.4256T>C NP_000341.2:p.Met1419Thr
NM_000350.3:c.4256T>C MANE Select NP_000341.2:p.Met1419Thr