Canonical Allele Identifier: CA227308

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99375
• ClinVar RCV Id: RCV000085729 ; RCV000791319 ; RCV001002813 ; RCV001257848
• dbSNP Id: rs61753030
• gnomAD v4: 1-94014542-C-T
• MyVariant Identifiers: chr1:g.94480098C>T (hg19) ; chr1:g.94014542C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94014542C>T , CM000663.2:g.94014542C>T	GRCh38
NC_000001.10:g.94480098C>T , CM000663.1:g.94480098C>T	GRCh37
NC_000001.9:g.94252686C>T	NCBI36
NG_009073.1:g.111608G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5460+1G>A MANE Select	ENSP00000359245.3:n.5460+1G>A
ENST00000370225.3:c.5460+1G>A	ENSP00000359245.3:n.5460+1G>A
ENST00000536513.5:c.1836+1G>A	ENSP00000439707.2:n.1836+1G>A
NM_000350.2:c.5460+1G>A	NP_000341.2:n.5460+1G>A
NM_000350.3:c.5460+1G>A MANE Select	NP_000341.2:n.5460+1G>A