Canonical Allele Identifier: CA957958
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1052465
ClinVar RCV Id: RCV001360658
dbSNP Id: rs376947008
gnomAD v2: 1-94506943-A-G
gnomAD v3: 1-94041387-A-G
gnomAD v4: 1-94041387-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041387A>G , CM000663.2:g.94041387A>G GRCh38
NC_000001.10:g.94506943A>G , CM000663.1:g.94506943A>G GRCh37
NC_000001.9:g.94279531A>G NCBI36
NG_009073.1:g.84763T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3344T>C MANE Select ENSP00000359245.3:p.Met1115Thr
ENST00000370225.3:c.3344T>C ENSP00000359245.3:p.Met1115Thr
ENST00000536513.5:c.-64-1298T>C ENSP00000439707.2:n.-64-1298T>C
NM_000350.2:c.3344T>C NP_000341.2:p.Met1115Thr
NM_000350.3:c.3344T>C MANE Select NP_000341.2:p.Met1115Thr