Canonical Allele Identifier: CA957455

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 298233
• ClinVar RCV Id: RCV000273593 ; RCV000314153 ; RCV000371133 ; RCV000404481 ; RCV001101751 ; RCV001413399
• dbSNP Id: rs374196141
• ExAC: 1:94487183 A / G
• gnomAD v2: 1-94487183-A-G
• gnomAD v3: 1-94021627-A-G
• gnomAD v4: 1-94021627-A-G
• MyVariant Identifiers: chr1:g.94487183A>G (hg19) ; chr1:g.94021627A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021627A>G , CM000663.2:g.94021627A>G	GRCh38
NC_000001.10:g.94487183A>G , CM000663.1:g.94487183A>G	GRCh37
NC_000001.9:g.94259771A>G	NCBI36
NG_009073.1:g.104523T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4848+13T>C MANE Select	ENSP00000359245.3:n.4848+13T>C
ENST00000370225.3:c.4848+13T>C	ENSP00000359245.3:n.4848+13T>C
ENST00000460514.1:n.342+13T>C
ENST00000536513.5:c.1224+13T>C	ENSP00000439707.2:n.1224+13T>C
NM_000350.2:c.4848+13T>C	NP_000341.2:n.4848+13T>C
NM_000350.3:c.4848+13T>C MANE Select	NP_000341.2:n.4848+13T>C