Canonical Allele Identifier: CA10602437

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 236101
• ClinVar RCV Id: RCV000408515 ; RCV001854781
• dbSNP Id: rs1047376
• gnomAD v2: 1-94506910-A-G
• gnomAD v4: 1-94041354-A-G
• MyVariant Identifiers: chr1:g.94506910A>G (hg19) ; chr1:g.94041354A>G (hg38)
• PubMed: PMID:25066811 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041354A>G , CM000663.2:g.94041354A>G	GRCh38
NC_000001.10:g.94506910A>G , CM000663.1:g.94506910A>G	GRCh37
NC_000001.9:g.94279498A>G	NCBI36
NG_009073.1:g.84796T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3377T>C MANE Select	ENSP00000359245.3:p.Leu1126Pro
ENST00000370225.3:c.3377T>C	ENSP00000359245.3:p.Leu1126Pro
ENST00000536513.5:c.-64-1265T>C	ENSP00000439707.2:n.-64-1265T>C
NM_000350.2:c.3377T>C	NP_000341.2:p.Leu1126Pro
NM_000350.3:c.3377T>C MANE Select	NP_000341.2:p.Leu1126Pro