Canonical Allele Identifier: CA227254

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99331
• ClinVar RCV Id: RCV000085684 ; RCV000321118 ; RCV000504816 ; RCV000787505 ; RCV003223338
• dbSNP Id: rs61751403
• ExAC: 1:94486895 C / T
• gnomAD v2: 1-94486895-C-T
• gnomAD v3: 1-94021339-C-T
• gnomAD v4: 1-94021339-C-T
• COSMIC: COSM5795976
• MyVariant Identifiers: chr1:g.94486895C>T (hg19) ; chr1:g.94021339C>T (hg38)
• PubMed: PMID:10711710 ; PMID:23755871 ; PMID:23891399 ; PMID:28041643 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021339C>T , CM000663.2:g.94021339C>T	GRCh38
NC_000001.10:g.94486895C>T , CM000663.1:g.94486895C>T	GRCh37
NC_000001.9:g.94259483C>T	NCBI36
NG_009073.1:g.104811G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4919G>A MANE Select	ENSP00000359245.3:p.Arg1640Gln
ENST00000370225.3:c.4919G>A	ENSP00000359245.3:p.Arg1640Gln
ENST00000460514.1:n.413G>A
ENST00000470771.1:n.29G>A
ENST00000536513.5:c.1295G>A	ENSP00000439707.2:p.Arg432Gln
NM_000350.2:c.4919G>A	NP_000341.2:p.Arg1640Gln
NM_000350.3:c.4919G>A MANE Select	NP_000341.2:p.Arg1640Gln