Canonical Allele Identifier: CA958009

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 298252
• ClinVar RCV Id: RCV000283211 ; RCV000342791 ; RCV000346419 ; RCV000377692 ; RCV001098163 ; RCV003718155
• dbSNP Id: rs775661924
• ExAC: 1:94508439 T / C
• gnomAD v2: 1-94508439-T-C
• gnomAD v3: 1-94042883-T-C
• gnomAD v4: 1-94042883-T-C
• MyVariant Identifiers: chr1:g.94508439T>C (hg19) ; chr1:g.94042883T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94042883T>C , CM000663.2:g.94042883T>C	GRCh38
NC_000001.10:g.94508439T>C , CM000663.1:g.94508439T>C	GRCh37
NC_000001.9:g.94281027T>C	NCBI36
NG_009073.1:g.83267A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3206A>G MANE Select	ENSP00000359245.3:p.Lys1069Arg
ENST00000370225.3:c.3206A>G	ENSP00000359245.3:p.Lys1069Arg
ENST00000536513.5:c.-64-2794A>G	ENSP00000439707.2:n.-64-2794A>G
NM_000350.2:c.3206A>G	NP_000341.2:p.Lys1069Arg
NM_000350.3:c.3206A>G MANE Select	NP_000341.2:p.Lys1069Arg