Canonical Allele Identifier: CA956857

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 1364902
• ClinVar RCV Id: RCV001907740
• dbSNP Id: rs545397722
• ExAC: 1:94463662 C / T
• gnomAD v2: 1-94463662-C-T
• gnomAD v3: 1-93998106-C-T
• gnomAD v4: 1-93998106-C-T
• MyVariant Identifiers: chr1:g.94463662C>T (hg19) ; chr1:g.93998106C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93998106C>T , CM000663.2:g.93998106C>T	GRCh38
NC_000001.10:g.94463662C>T , CM000663.1:g.94463662C>T	GRCh37
NC_000001.9:g.94236250C>T	NCBI36
NG_009073.1:g.128044G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6484G>A MANE Select	ENSP00000359245.3:p.Gly2162Arg
ENST00000370225.3:c.6484G>A	ENSP00000359245.3:p.Gly2162Arg
ENST00000536513.5:c.2860G>A	ENSP00000439707.2:p.Gly954Arg
NM_000350.2:c.6484G>A	NP_000341.2:p.Gly2162Arg
NM_000350.3:c.6484G>A MANE Select	NP_000341.2:p.Gly2162Arg