Canonical Allele Identifier: CA341279329

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94007632-A-G
• MyVariant Identifiers: chr1:g.94473188A>G (hg19) ; chr1:g.94007632A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94007632A>G , CM000663.2:g.94007632A>G	GRCh38
NC_000001.10:g.94473188A>G , CM000663.1:g.94473188A>G	GRCh37
NC_000001.9:g.94245776A>G	NCBI36
NG_009073.1:g.118518T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.6005+2T>C MANE Select	ENSP00000359245.3:n.6005+2T>C
ENST00000370225.3:c.6005+2T>C	ENSP00000359245.3:n.6005+2T>C
ENST00000465352.1:n.421+2T>C
ENST00000484388.1:n.119+2T>C
ENST00000536513.5:c.2381+2T>C	ENSP00000439707.2:n.2381+2T>C
NM_000350.2:c.6005+2T>C	NP_000341.2:n.6005+2T>C
NM_000350.3:c.6005+2T>C MANE Select	NP_000341.2:n.6005+2T>C