Canonical Allele Identifier: CA958166

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 298254
• ClinVar RCV Id: RCV000263987 ; RCV000323753 ; RCV000360065 ; RCV000358873 ; RCV000897416 ; RCV001101953
• dbSNP Id: rs76305791
• ExAC: 1:94512654 G / A
• gnomAD v2: 1-94512654-G-A
• gnomAD v3: 1-94047098-G-A
• gnomAD v4: 1-94047098-G-A
• MyVariant Identifiers: chr1:g.94512654G>A (hg19) ; chr1:g.94047098G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047098G>A , CM000663.2:g.94047098G>A	GRCh38
NC_000001.10:g.94512654G>A , CM000663.1:g.94512654G>A	GRCh37
NC_000001.9:g.94285242G>A	NCBI36
NG_009073.1:g.79052C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-5C>T MANE Select	ENSP00000359245.3:n.2744-5C>T
ENST00000649773.1:c.2522-5C>T	ENSP00000496882.1:n.2522-5C>T
ENST00000370225.3:c.2744-5C>T	ENSP00000359245.3:n.2744-5C>T
ENST00000536513.5:c.-64-7009C>T	ENSP00000439707.2:n.-64-7009C>T
NM_000350.2:c.2744-5C>T	NP_000341.2:n.2744-5C>T
NM_000350.3:c.2744-5C>T MANE Select	NP_000341.2:n.2744-5C>T