Canonical Allele Identifier: CA227320

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99385
• ClinVar RCV Id: RCV000085739 ; RCV000678512 ; RCV000787512
• dbSNP Id: rs61750633
• gnomAD v4: 1-94011256-A-G
• MyVariant Identifiers: chr1:g.94476812A>G (hg19) ; chr1:g.94011256A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94011256A>G , CM000663.2:g.94011256A>G	GRCh38
NC_000001.10:g.94476812A>G , CM000663.1:g.94476812A>G	GRCh37
NC_000001.9:g.94249400A>G	NCBI36
NG_009073.1:g.114894T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5584+6T>C MANE Select	ENSP00000359245.3:n.5584+6T>C
ENST00000370225.3:c.5584+6T>C	ENSP00000359245.3:n.5584+6T>C
ENST00000536513.5:c.1960+6T>C	ENSP00000439707.2:n.1960+6T>C
NM_000350.2:c.5584+6T>C	NP_000341.2:n.5584+6T>C
NM_000350.3:c.5584+6T>C MANE Select	NP_000341.2:n.5584+6T>C