Canonical Allele Identifier: CA956968
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs780141169
gnomAD v2: 1-94467389-T-C
gnomAD v3: 1-94001833-T-C
gnomAD v4: 1-94001833-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001833T>C , CM000663.2:g.94001833T>C GRCh38
NC_000001.10:g.94467389T>C , CM000663.1:g.94467389T>C GRCh37
NC_000001.9:g.94239977T>C NCBI36
NG_009073.1:g.124317A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6282+25A>G MANE Select ENSP00000359245.3:n.6282+25A>G
ENST00000370225.3:c.6282+25A>G ENSP00000359245.3:n.6282+25A>G
ENST00000465352.1:n.723A>G
ENST00000536513.5:c.2658+25A>G ENSP00000439707.2:n.2658+25A>G
NM_000350.2:c.6282+25A>G NP_000341.2:n.6282+25A>G
NM_000350.3:c.6282+25A>G MANE Select NP_000341.2:n.6282+25A>G