Canonical Allele Identifier: CA226958

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99102
• ClinVar RCV Id: RCV000085446 ; RCV000408583 ; RCV001074170 ; RCV001098278
• dbSNP Id: rs61754024
• ExAC: 1:94528142 A / C
• gnomAD v2: 1-94528142-A-C
• gnomAD v3: 1-94062586-A-C
• gnomAD v4: 1-94062586-A-C
• MyVariant Identifiers: chr1:g.94528142A>C (hg19) ; chr1:g.94062586A>C (hg38)
• PubMed: PMID:17982420 ; PMID:20981092 ; PMID:24265693 ; PMID:25525159 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062586A>C , CM000663.2:g.94062586A>C	GRCh38
NC_000001.10:g.94528142A>C , CM000663.1:g.94528142A>C	GRCh37
NC_000001.9:g.94300730A>C	NCBI36
NG_009073.1:g.63564T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1928T>G MANE Select	ENSP00000359245.3:p.Val643Gly
ENST00000649773.1:c.1928T>G	ENSP00000496882.1:p.Val643Gly
ENST00000370225.3:c.1928T>G	ENSP00000359245.3:p.Val643Gly
ENST00000536513.5:c.-65+588T>G	ENSP00000439707.2:n.-65+588T>G
NM_000350.2:c.1928T>G	NP_000341.2:p.Val643Gly
NM_000350.3:c.1928T>G MANE Select	NP_000341.2:p.Val643Gly