Canonical Allele Identifier: CA226983

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99120
• ClinVar RCV Id: RCV000085464 ; RCV000787776 ; RCV001000882 ; RCV001353042 ; RCV002466250
• dbSNP Id: rs61751412
• ExAC: 1:94577082 C / T
• gnomAD v2: 1-94577082-C-T
• gnomAD v3: 1-94111526-C-T
• gnomAD v4: 1-94111526-C-T
• MyVariant Identifiers: chr1:g.94577082C>T (hg19) ; chr1:g.94111526C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111526C>T , CM000663.2:g.94111526C>T	GRCh38
NC_000001.10:g.94577082C>T , CM000663.1:g.94577082C>T	GRCh37
NC_000001.9:g.94349670C>T	NCBI36
NG_009073.1:g.14624G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.214G>A MANE Select	ENSP00000359245.3:p.Gly72Arg
ENST00000649773.1:c.214G>A	ENSP00000496882.1:p.Gly72Arg
ENST00000370225.3:c.214G>A	ENSP00000359245.3:p.Gly72Arg
NM_000350.2:c.214G>A	NP_000341.2:p.Gly72Arg
NM_000350.3:c.214G>A MANE Select	NP_000341.2:p.Gly72Arg