Canonical Allele Identifier: CA341285849
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1156808600
gnomAD v2: 1-94496051-C-G
gnomAD v4: 1-94030495-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030495C>G , CM000663.2:g.94030495C>G GRCh38
NC_000001.10:g.94496051C>G , CM000663.1:g.94496051C>G GRCh37
NC_000001.9:g.94268639C>G NCBI36
NG_009073.1:g.95655G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4285G>C MANE Select ENSP00000359245.3:p.Val1429Leu
ENST00000370225.3:c.4285G>C ENSP00000359245.3:p.Val1429Leu
ENST00000536513.5:c.661G>C ENSP00000439707.2:p.Val221Leu
NM_000350.2:c.4285G>C NP_000341.2:p.Val1429Leu
NM_000350.3:c.4285G>C MANE Select NP_000341.2:p.Val1429Leu