Canonical Allele Identifier: CA227192

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99283
• ClinVar RCV Id: RCV000085636 ; RCV000408536 ; RCV001002829 ; RCV001198562 ; RCV001074852 ; RCV002498456
• dbSNP Id: rs61750145
• ExAC: 1:94495083 G / A
• gnomAD v2: 1-94495083-G-A
• gnomAD v3: 1-94029527-G-A
• gnomAD v4: 1-94029527-G-A
• MyVariant Identifiers: chr1:g.94495083G>A (hg19) ; chr1:g.94029527G>A (hg38)
• PubMed: PMID:9973280 ; PMID:25412400 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94029527G>A , CM000663.2:g.94029527G>A	GRCh38
NC_000001.10:g.94495083G>A , CM000663.1:g.94495083G>A	GRCh37
NC_000001.9:g.94267671G>A	NCBI36
NG_009073.1:g.96623C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4457C>T MANE Select	ENSP00000359245.3:p.Pro1486Leu
ENST00000370225.3:c.4457C>T	ENSP00000359245.3:p.Pro1486Leu
ENST00000536513.5:c.833C>T	ENSP00000439707.2:p.Pro278Leu
NM_000350.2:c.4457C>T	NP_000341.2:p.Pro1486Leu
NM_000350.3:c.4457C>T MANE Select	NP_000341.2:p.Pro1486Leu