Canonical Allele Identifier: CA200895

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99071
• ClinVar RCV Id: RCV000085414 ; RCV000174240 ; RCV001100051 ; RCV003888470
• dbSNP Id: rs61753963
• ExAC: 1:94528775 C / T
• gnomAD v2: 1-94528775-C-T
• gnomAD v3: 1-94063219-C-T
• gnomAD v4: 1-94063219-C-T
• MyVariant Identifiers: chr1:g.94528775C>T (hg19) ; chr1:g.94063219C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94063219C>T , CM000663.2:g.94063219C>T	GRCh38
NC_000001.10:g.94528775C>T , CM000663.1:g.94528775C>T	GRCh37
NC_000001.9:g.94301363C>T	NCBI36
NG_009073.1:g.62931G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.1653G>A MANE Select	ENSP00000359245.3:p.Val551=
ENST00000649773.1:c.1653G>A	ENSP00000496882.1:p.Val551=
ENST00000370225.3:c.1653G>A	ENSP00000359245.3:p.Val551=
ENST00000536513.5:c.-110G>A	ENSP00000439707.2:n.-110G>A
NM_000350.2:c.1653G>A	NP_000341.2:p.Val551=
NM_000350.3:c.1653G>A MANE Select	NP_000341.2:p.Val551=