Canonical Allele Identifier: CA957076

Gene: ABCA4

Linked Data

• dbSNP Id: rs777106039
• ExAC: 1:94473751 T / C
• gnomAD v2: 1-94473751-T-C
• gnomAD v4: 1-94008195-T-C
• MyVariant Identifiers: chr1:g.94473751T>C (hg19) ; chr1:g.94008195T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94008195T>C , CM000663.2:g.94008195T>C	GRCh38
NC_000001.10:g.94473751T>C , CM000663.1:g.94473751T>C	GRCh37
NC_000001.9:g.94246339T>C	NCBI36
NG_009073.1:g.117955A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5898+40A>G MANE Select	ENSP00000359245.3:n.5898+40A>G
ENST00000370225.3:c.5898+40A>G	ENSP00000359245.3:n.5898+40A>G
ENST00000465352.1:n.314+40A>G
ENST00000536513.5:c.2274+40A>G	ENSP00000439707.2:n.2274+40A>G
NM_000350.2:c.5898+40A>G	NP_000341.2:n.5898+40A>G
NM_000350.3:c.5898+40A>G MANE Select	NP_000341.2:n.5898+40A>G