Canonical Allele Identifier: CA10602443

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 236090
• ClinVar RCV Id: RCV000408563 ; RCV001075206 ; RCV001352989 ; RCV001854780
• dbSNP Id: rs61749427
• gnomAD v3: 1-94060536-C-A
• gnomAD v4: 1-94060536-C-A
• MyVariant Identifiers: chr1:g.94526092C>A (hg19) ; chr1:g.94060536C>A (hg38)
• PubMed: PMID:9973280 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060536C>A , CM000663.2:g.94060536C>A	GRCh38
NC_000001.10:g.94526092C>A , CM000663.1:g.94526092C>A	GRCh37
NC_000001.9:g.94298680C>A	NCBI36
NG_009073.1:g.65614G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2160+1G>T MANE Select	ENSP00000359245.3:n.2160+1G>T
ENST00000649773.1:c.2160+1G>T	ENSP00000496882.1:n.2160+1G>T
ENST00000370225.3:c.2160+1G>T	ENSP00000359245.3:n.2160+1G>T
ENST00000472033.1:n.280+1G>T
ENST00000536513.5:c.-65+2638G>T	ENSP00000439707.2:n.-65+2638G>T
NM_000350.2:c.2160+1G>T	NP_000341.2:n.2160+1G>T
NM_000350.3:c.2160+1G>T MANE Select	NP_000341.2:n.2160+1G>T