Canonical Allele Identifier: CA226872

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99033
• ClinVar RCV Id: RCV000085376 ; RCV001096640 ; RCV000764205 ; RCV000986372 ; RCV001073759 ; RCV001257823
• dbSNP Id: rs61748549
• ExAC: 1:94544977 A / T
• gnomAD v2: 1-94544977-A-T
• gnomAD v3: 1-94079421-A-T
• gnomAD v4: 1-94079421-A-T
• COSMIC: COSM465119
• MyVariant Identifiers: chr1:g.94544977A>T (hg19) ; chr1:g.94079421A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94079421A>T , CM000663.2:g.94079421A>T	GRCh38
NC_000001.10:g.94544977A>T , CM000663.1:g.94544977A>T	GRCh37
NC_000001.9:g.94317565A>T	NCBI36
NG_009073.1:g.46729T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1140T>A MANE Select	ENSP00000359245.3:p.Asn380Lys
ENST00000649773.1:c.1140T>A	ENSP00000496882.1:p.Asn380Lys
ENST00000370225.3:c.1140T>A	ENSP00000359245.3:p.Asn380Lys
NM_000350.2:c.1140T>A	NP_000341.2:p.Asn380Lys
NM_000350.3:c.1140T>A MANE Select	NP_000341.2:p.Asn380Lys