Canonical Allele Identifier: CA10602452

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 236077
• ClinVar RCV Id: RCV000408537 ; RCV002478825
• dbSNP Id: rs886044724
• gnomAD v2: 1-94546124-A-G
• gnomAD v3: 1-94080568-A-G
• gnomAD v4: 1-94080568-A-G
• MyVariant Identifiers: chr1:g.94546124A>G (hg19) ; chr1:g.94080568A>G (hg38)
• PubMed: PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94080568A>G , CM000663.2:g.94080568A>G	GRCh38
NC_000001.10:g.94546124A>G , CM000663.1:g.94546124A>G	GRCh37
NC_000001.9:g.94318712A>G	NCBI36
NG_009073.1:g.45582T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1009T>C MANE Select	ENSP00000359245.3:p.Phe337Leu
ENST00000649773.1:c.1009T>C	ENSP00000496882.1:p.Phe337Leu
ENST00000370225.3:c.1009T>C	ENSP00000359245.3:p.Phe337Leu
NM_000350.2:c.1009T>C	NP_000341.2:p.Phe337Leu
NM_000350.3:c.1009T>C MANE Select	NP_000341.2:p.Phe337Leu