Canonical Allele Identifier: CA119145

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 7911
• ClinVar RCV Id: RCV000008371 ; RCV000008370 ; RCV000008372 ; RCV000085762
• dbSNP Id: rs61753033
• ExAC: 1:94474323 A / G
• gnomAD v2: 1-94474323-A-G
• gnomAD v4: 1-94008767-A-G
• MyVariant Identifiers: chr1:g.94474323A>G (hg19) ; chr1:g.94008767A>G (hg38)
• PubMed: PMID:16546111 ; PMID:18285826

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94008767A>G , CM000663.2:g.94008767A>G	GRCh38
NC_000001.10:g.94474323A>G , CM000663.1:g.94474323A>G	GRCh37
NC_000001.9:g.94246911A>G	NCBI36
NG_009073.1:g.117383T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5819T>C MANE Select	ENSP00000359245.3:p.Leu1940Pro
ENST00000370225.3:c.5819T>C	ENSP00000359245.3:p.Leu1940Pro
ENST00000465352.1:n.235T>C
ENST00000536513.5:c.2195T>C	ENSP00000439707.2:p.Leu732Pro
NM_000350.2:c.5819T>C	NP_000341.2:p.Leu1940Pro
NM_000350.3:c.5819T>C MANE Select	NP_000341.2:p.Leu1940Pro