Canonical Allele Identifier: CA341277514
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94001044-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001044C>G , CM000663.2:g.94001044C>G GRCh38
NC_000001.10:g.94466600C>G , CM000663.1:g.94466600C>G GRCh37
NC_000001.9:g.94239188C>G NCBI36
NG_009073.1:g.125106G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6344G>C MANE Select ENSP00000359245.3:p.Ser2115Thr
ENST00000370225.3:c.6344G>C ENSP00000359245.3:p.Ser2115Thr
ENST00000536513.5:c.2720G>C ENSP00000439707.2:p.Ser907Thr
NM_000350.2:c.6344G>C NP_000341.2:p.Ser2115Thr
NM_000350.3:c.6344G>C MANE Select NP_000341.2:p.Ser2115Thr