Canonical Allele Identifier: CA227145

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99245
• ClinVar RCV Id: RCV000085598 ; RCV001073602 ; RCV001727570
• dbSNP Id: rs61752427
• ExAC: 1:94497564 G / A
• gnomAD v2: 1-94497564-G-A
• gnomAD v3: 1-94032008-G-A
• gnomAD v4: 1-94032008-G-A
• MyVariant Identifiers: chr1:g.94497564G>A (hg19) ; chr1:g.94032008G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94032008G>A , CM000663.2:g.94032008G>A	GRCh38
NC_000001.10:g.94497564G>A , CM000663.1:g.94497564G>A	GRCh37
NC_000001.9:g.94270152G>A	NCBI36
NG_009073.1:g.94142C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3898C>T MANE Select	ENSP00000359245.3:p.Arg1300Ter
ENST00000370225.3:c.3898C>T	ENSP00000359245.3:p.Arg1300Ter
ENST00000536513.5:c.274C>T	ENSP00000439707.2:p.Arg92Ter
NM_000350.2:c.3898C>T	NP_000341.2:p.Arg1300Ter
NM_000350.3:c.3898C>T MANE Select	NP_000341.2:p.Arg1300Ter