Canonical Allele Identifier: CA227116

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99224
• ClinVar RCV Id: RCV000085576 ; RCV000408578 ; RCV000763045 ; RCV001075726 ; RCV001199211
• dbSNP Id: rs1801269
• ExAC: 1:94506901 C / A
• gnomAD v2: 1-94506901-C-A
• gnomAD v3: 1-94041345-C-A
• gnomAD v4: 1-94041345-C-A
• MyVariant Identifiers: chr1:g.94506901C>A (hg19) ; chr1:g.94041345C>A (hg38)
• PubMed: PMID:9295268 ; PMID:17277736 ; PMID:19074458 ; PMID:23755871 ; PMID:25698705 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041345C>A , CM000663.2:g.94041345C>A	GRCh38
NC_000001.10:g.94506901C>A , CM000663.1:g.94506901C>A	GRCh37
NC_000001.9:g.94279489C>A	NCBI36
NG_009073.1:g.84805G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3386G>T MANE Select	ENSP00000359245.3:p.Arg1129Leu
ENST00000370225.3:c.3386G>T	ENSP00000359245.3:p.Arg1129Leu
ENST00000536513.5:c.-64-1256G>T	ENSP00000439707.2:n.-64-1256G>T
NM_000350.2:c.3386G>T	NP_000341.2:p.Arg1129Leu
NM_000350.3:c.3386G>T MANE Select	NP_000341.2:p.Arg1129Leu