Canonical Allele Identifier: CA227298

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99367
• ClinVar RCV Id: RCV000085721 ; RCV001074187 ; RCV000787509 ; RCV001723668 ; RCV001352958 ; RCV004529892
• dbSNP Id: rs61750571
• ExAC: 1:94480243 C / T
• gnomAD v2: 1-94480243-C-T
• gnomAD v3: 1-94014687-C-T
• gnomAD v4: 1-94014687-C-T
• MyVariant Identifiers: chr1:g.94480243C>T (hg19) ; chr1:g.94014687C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94014687C>T , CM000663.2:g.94014687C>T	GRCh38
NC_000001.10:g.94480243C>T , CM000663.1:g.94480243C>T	GRCh37
NC_000001.9:g.94252831C>T	NCBI36
NG_009073.1:g.111463G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5316G>A MANE Select	ENSP00000359245.3:p.Trp1772Ter
ENST00000370225.3:c.5316G>A	ENSP00000359245.3:p.Trp1772Ter
ENST00000536513.5:c.1692G>A	ENSP00000439707.2:p.Trp564Ter
NM_000350.2:c.5316G>A	NP_000341.2:p.Trp1772Ter
NM_000350.3:c.5316G>A MANE Select	NP_000341.2:p.Trp1772Ter