Canonical Allele Identifier: CA26840906

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 929304
• ClinVar RCV Id: RCV001270179 ; RCV002561021
• dbSNP Id: rs985690206
• gnomAD v2: 1-94512614-G-A
• gnomAD v4: 1-94047058-G-A
• MyVariant Identifiers: chr1:g.94512614G>A (hg19) ; chr1:g.94047058G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047058G>A , CM000663.2:g.94047058G>A	GRCh38
NC_000001.10:g.94512614G>A , CM000663.1:g.94512614G>A	GRCh37
NC_000001.9:g.94285202G>A	NCBI36
NG_009073.1:g.79092C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2779C>T MANE Select	ENSP00000359245.3:p.Pro927Ser
ENST00000649773.1:c.2557C>T	ENSP00000496882.1:p.Pro853Ser
ENST00000370225.3:c.2779C>T	ENSP00000359245.3:p.Pro927Ser
ENST00000536513.5:c.-64-6969C>T	ENSP00000439707.2:n.-64-6969C>T
NM_000350.2:c.2779C>T	NP_000341.2:p.Pro927Ser
NM_000350.3:c.2779C>T MANE Select	NP_000341.2:p.Pro927Ser