Canonical Allele Identifier: CA227179

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99273
• ClinVar RCV Id: RCV000085626 ; RCV001195926 ; RCV003330431
• dbSNP Id: rs62646860
• gnomAD v2: 1-94574147-G-A
• gnomAD v3: 1-94108591-G-A
• gnomAD v4: 1-94108591-G-A
• MyVariant Identifiers: chr1:g.94574147G>A (hg19) ; chr1:g.94108591G>A (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94108591G>A , CM000663.2:g.94108591G>A	GRCh38
NC_000001.10:g.94574147G>A , CM000663.1:g.94574147G>A	GRCh37
NC_000001.9:g.94346735G>A	NCBI36
NG_009073.1:g.17559C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.428C>T MANE Select	ENSP00000359245.3:p.Pro143Leu
ENST00000649773.1:c.428C>T	ENSP00000496882.1:p.Pro143Leu
ENST00000370225.3:c.428C>T	ENSP00000359245.3:p.Pro143Leu
NM_000350.2:c.428C>T	NP_000341.2:p.Pro143Leu
NM_000350.3:c.428C>T MANE Select	NP_000341.2:p.Pro143Leu