Canonical Allele Identifier: CA227396

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99452
• ClinVar RCV Id: RCV000085811 ; RCV000318700 ; RCV001073884 ; RCV002490746 ; RCV004529894
• dbSNP Id: rs61748520
• ExAC: 1:94466602 C / T
• gnomAD v2: 1-94466602-C-T
• gnomAD v3: 1-94001046-C-T
• gnomAD v4: 1-94001046-C-T
• MyVariant Identifiers: chr1:g.94466602C>T (hg19) ; chr1:g.94001046C>T (hg38)
• PubMed: PMID:23891399 ; PMID:23918662 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001046C>T , CM000663.2:g.94001046C>T	GRCh38
NC_000001.10:g.94466602C>T , CM000663.1:g.94466602C>T	GRCh37
NC_000001.9:g.94239190C>T	NCBI36
NG_009073.1:g.125104G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6342G>A MANE Select	ENSP00000359245.3:p.Val2114=
ENST00000370225.3:c.6342G>A	ENSP00000359245.3:p.Val2114=
ENST00000536513.5:c.2718G>A	ENSP00000439707.2:p.Val906=
NM_000350.2:c.6342G>A	NP_000341.2:p.Val2114=
NM_000350.3:c.6342G>A MANE Select	NP_000341.2:p.Val2114=