Canonical Allele Identifier: CA226964

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99107
• ClinVar RCV Id: RCV000085451 ; RCV000132588 ; RCV001074366 ; RCV002490741
• dbSNP Id: rs62654395
• gnomAD v2: 1-94577102-C-T
• gnomAD v4: 1-94111546-C-T
• MyVariant Identifiers: chr1:g.94577102C>T (hg19) ; chr1:g.94111546C>T (hg38)
• PubMed: PMID:10206579 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111546C>T , CM000663.2:g.94111546C>T	GRCh38
NC_000001.10:g.94577102C>T , CM000663.1:g.94577102C>T	GRCh37
NC_000001.9:g.94349690C>T	NCBI36
NG_009073.1:g.14604G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.194G>A MANE Select	ENSP00000359245.3:p.Gly65Glu
ENST00000649773.1:c.194G>A	ENSP00000496882.1:p.Gly65Glu
ENST00000370225.3:c.194G>A	ENSP00000359245.3:p.Gly65Glu
NM_000350.2:c.194G>A	NP_000341.2:p.Gly65Glu
NM_000350.3:c.194G>A MANE Select	NP_000341.2:p.Gly65Glu