Canonical Allele Identifier: CA957556

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 298235
• ClinVar RCV Id: RCV000310399 ; RCV000350024 ; RCV000362798 ; RCV000406989 ; RCV000488110 ; RCV001096332
• dbSNP Id: rs138831474
• ExAC: 1:94490566 C / T
• gnomAD v2: 1-94490566-C-T
• gnomAD v3: 1-94025010-C-T
• gnomAD v4: 1-94025010-C-T
• COSMIC: COSM4658098
• MyVariant Identifiers: chr1:g.94490566C>T (hg19) ; chr1:g.94025010C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94025010C>T , CM000663.2:g.94025010C>T	GRCh38
NC_000001.10:g.94490566C>T , CM000663.1:g.94490566C>T	GRCh37
NC_000001.9:g.94263154C>T	NCBI36
NG_009073.1:g.101140G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4578G>A MANE Select	ENSP00000359245.3:p.Thr1526=
ENST00000370225.3:c.4578G>A	ENSP00000359245.3:p.Thr1526=
ENST00000460514.1:n.72G>A
ENST00000536513.5:c.954G>A	ENSP00000439707.2:p.Thr318=
NM_000350.2:c.4578G>A	NP_000341.2:p.Thr1526=
NM_000350.3:c.4578G>A MANE Select	NP_000341.2:p.Thr1526=