Canonical Allele Identifier: CA227296

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 7899
• ClinVar RCV Id: RCV000008356 ; RCV000085719 ; RCV001075717
• dbSNP Id: rs121909205
• ExAC: 1:94586550 G / A
• gnomAD v2: 1-94586550-G-A
• gnomAD v3: 1-94120994-G-A
• gnomAD v4: 1-94120994-G-A
• MyVariant Identifiers: chr1:g.94586550G>A (hg19) ; chr1:g.94120994G>A (hg38)
• PubMed: PMID:9503029 ; PMID:23755871 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94120994G>A , CM000663.2:g.94120994G>A	GRCh38
NC_000001.10:g.94586550G>A , CM000663.1:g.94586550G>A	GRCh37
NC_000001.9:g.94359138G>A	NCBI36
NG_009073.1:g.5156C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.52C>T MANE Select	ENSP00000359245.3:p.Arg18Trp
ENST00000649773.1:c.52C>T	ENSP00000496882.1:p.Arg18Trp
ENST00000370225.3:c.52C>T	ENSP00000359245.3:p.Arg18Trp
NM_000350.2:c.52C>T	NP_000341.2:p.Arg18Trp
NM_000350.3:c.52C>T MANE Select	NP_000341.2:p.Arg18Trp