Canonical Allele Identifier: CA341283079
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94021333-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021333C>G , CM000663.2:g.94021333C>G GRCh38
NC_000001.10:g.94486889C>G , CM000663.1:g.94486889C>G GRCh37
NC_000001.9:g.94259477C>G NCBI36
NG_009073.1:g.104817G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4925G>C MANE Select ENSP00000359245.3:p.Ser1642Thr
ENST00000370225.3:c.4925G>C ENSP00000359245.3:p.Ser1642Thr
ENST00000460514.1:n.419G>C
ENST00000470771.1:n.35G>C
ENST00000536513.5:c.1301G>C ENSP00000439707.2:p.Ser434Thr
NM_000350.2:c.4925G>C NP_000341.2:p.Ser1642Thr
NM_000350.3:c.4925G>C MANE Select NP_000341.2:p.Ser1642Thr