Canonical Allele Identifier: CA179698

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99408
• ClinVar RCV Id: RCV000085763 ; RCV000152715 ; RCV000281163 ; RCV000313494 ; RCV000336246 ; RCV000407106 ; RCV001548897 ; RCV001548899 ; RCV001548898 ; RCV001096229 ; RCV001548896
• dbSNP Id: rs1800739
• ExAC: 1:94473864 C / T
• gnomAD v2: 1-94473864-C-T
• gnomAD v3: 1-94008308-C-T
• gnomAD v4: 1-94008308-C-T
• MyVariant Identifiers: chr1:g.94473864C>T (hg19) ; chr1:g.94008308C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94008308C>T , CM000663.2:g.94008308C>T	GRCh38
NC_000001.10:g.94473864C>T , CM000663.1:g.94473864C>T	GRCh37
NC_000001.9:g.94246452C>T	NCBI36
NG_009073.1:g.117842G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5836-11G>A MANE Select	ENSP00000359245.3:n.5836-11G>A
ENST00000370225.3:c.5836-11G>A	ENSP00000359245.3:n.5836-11G>A
ENST00000465352.1:n.252-11G>A
ENST00000536513.5:c.2212-11G>A	ENSP00000439707.2:n.2212-11G>A
NM_000350.2:c.5836-11G>A	NP_000341.2:n.5836-11G>A
NM_000350.3:c.5836-11G>A MANE Select	NP_000341.2:n.5836-11G>A