Canonical Allele Identifier: CA957222

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 377406
• ClinVar RCV Id: RCV000421632 ; RCV002289547 ; RCV002480281 ; RCV003224874
• dbSNP Id: rs371489809
• ExAC: 1:94476830 A / T
• gnomAD v2: 1-94476830-A-T
• gnomAD v3: 1-94011274-A-T
• gnomAD v4: 1-94011274-A-T
• MyVariant Identifiers: chr1:g.94476830A>T (hg19) ; chr1:g.94011274A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94011274A>T , CM000663.2:g.94011274A>T	GRCh38
NC_000001.10:g.94476830A>T , CM000663.1:g.94476830A>T	GRCh37
NC_000001.9:g.94249418A>T	NCBI36
NG_009073.1:g.114876T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5572T>A MANE Select	ENSP00000359245.3:p.Tyr1858Asn
ENST00000370225.3:c.5572T>A	ENSP00000359245.3:p.Tyr1858Asn
ENST00000536513.5:c.1948T>A	ENSP00000439707.2:p.Tyr650Asn
NM_000350.2:c.5572T>A	NP_000341.2:p.Tyr1858Asn
NM_000350.3:c.5572T>A MANE Select	NP_000341.2:p.Tyr1858Asn