Canonical Allele Identifier: CA10611639

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 298253
• ClinVar RCV Id: RCV000298413 ; RCV000334643 ; RCV000399846 ; RCV000392686 ; RCV001098167 ; RCV002520514
• dbSNP Id: rs886046565
• gnomAD v2: 1-94509019-A-C
• gnomAD v4: 1-94043463-A-C
• MyVariant Identifiers: chr1:g.94509019A>C (hg19) ; chr1:g.94043463A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043463A>C , CM000663.2:g.94043463A>C	GRCh38
NC_000001.10:g.94509019A>C , CM000663.1:g.94509019A>C	GRCh37
NC_000001.9:g.94281607A>C	NCBI36
NG_009073.1:g.82687T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3063T>G MANE Select	ENSP00000359245.3:p.Ala1021=
ENST00000370225.3:c.3063T>G	ENSP00000359245.3:p.Ala1021=
ENST00000536513.5:c.-64-3374T>G	ENSP00000439707.2:n.-64-3374T>G
NM_000350.2:c.3063T>G	NP_000341.2:p.Ala1021=
NM_000350.3:c.3063T>G MANE Select	NP_000341.2:p.Ala1021=