Canonical Allele Identifier: CA289219

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 136241
• ClinVar RCV Id: RCV000123439 ; RCV000266131 ; RCV000310721 ; RCV000365294 ; RCV000406941 ; RCV000726042 ; RCV001101850
• dbSNP Id: rs147884766
• ExAC: 1:94502755 C / T
• gnomAD v2: 1-94502755-C-T
• gnomAD v3: 1-94037199-C-T
• gnomAD v4: 1-94037199-C-T
• MyVariant Identifiers: chr1:g.94502755C>T (hg19) ; chr1:g.94037199C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94037199C>T , CM000663.2:g.94037199C>T	GRCh38
NC_000001.10:g.94502755C>T , CM000663.1:g.94502755C>T	GRCh37
NC_000001.9:g.94275343C>T	NCBI36
NG_009073.1:g.88951G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3759G>A MANE Select	ENSP00000359245.3:p.Thr1253=
ENST00000370225.3:c.3759G>A	ENSP00000359245.3:p.Thr1253=
ENST00000536513.5:c.135G>A	ENSP00000439707.2:p.Thr45=
NM_000350.2:c.3759G>A	NP_000341.2:p.Thr1253=
NM_000350.3:c.3759G>A MANE Select	NP_000341.2:p.Thr1253=