Canonical Allele Identifier: CA227106

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99217
• ClinVar RCV Id: RCV000085568 ; RCV000779010 ; RCV001074134 ; RCV002247489 ; RCV001723665 ; RCV003324509 ; RCV002051808 ; RCV003324510
• dbSNP Id: rs62645946
• ExAC: 1:94586570 A / G
• gnomAD v2: 1-94586570-A-G
• gnomAD v3: 1-94121014-A-G
• gnomAD v4: 1-94121014-A-G
• MyVariant Identifiers: chr1:g.94586570A>G (hg19) ; chr1:g.94121014A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94121014A>G , CM000663.2:g.94121014A>G	GRCh38
NC_000001.10:g.94586570A>G , CM000663.1:g.94586570A>G	GRCh37
NC_000001.9:g.94359158A>G	NCBI36
NG_009073.1:g.5136T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.32T>C MANE Select	ENSP00000359245.3:p.Leu11Pro
ENST00000649773.1:c.32T>C	ENSP00000496882.1:p.Leu11Pro
ENST00000370225.3:c.32T>C	ENSP00000359245.3:p.Leu11Pro
NM_000350.2:c.32T>C	NP_000341.2:p.Leu11Pro
NM_000350.3:c.32T>C MANE Select	NP_000341.2:p.Leu11Pro