Canonical Allele Identifier: CA227400

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99456
• ClinVar RCV Id: RCV000085816 ; RCV000408502 ; RCV003225930
• dbSNP Id: rs61753043
• gnomAD v2: 1-94466556-G-C
• gnomAD v3: 1-94001000-G-C
• gnomAD v4: 1-94001000-G-C
• MyVariant Identifiers: chr1:g.94466556G>C (hg19) ; chr1:g.94001000G>C (hg38)
• PubMed: PMID:14517951 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001000G>C , CM000663.2:g.94001000G>C	GRCh38
NC_000001.10:g.94466556G>C , CM000663.1:g.94466556G>C	GRCh37
NC_000001.9:g.94239144G>C	NCBI36
NG_009073.1:g.125150C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6386+2C>G MANE Select	ENSP00000359245.3:n.6386+2C>G
ENST00000370225.3:c.6386+2C>G	ENSP00000359245.3:n.6386+2C>G
ENST00000536513.5:c.2762+2C>G	ENSP00000439707.2:n.2762+2C>G
NM_000350.2:c.6386+2C>G	NP_000341.2:n.6386+2C>G
NM_000350.3:c.6386+2C>G MANE Select	NP_000341.2:n.6386+2C>G