Canonical Allele Identifier: CA226961

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99104
• ClinVar RCV Id: RCV000085448 ; RCV000408499 ; RCV002287364 ; RCV001542645
• dbSNP Id: rs61752401
• ExAC: 1:94528132 C / T
• gnomAD v2: 1-94528132-C-T
• gnomAD v4: 1-94062576-C-T
• MyVariant Identifiers: chr1:g.94528132C>T (hg19) ; chr1:g.94062576C>T (hg38)
• PubMed: PMID:10958763 ; PMID:24585425 ; PMID:25525159 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062576C>T , CM000663.2:g.94062576C>T	GRCh38
NC_000001.10:g.94528132C>T , CM000663.1:g.94528132C>T	GRCh37
NC_000001.9:g.94300720C>T	NCBI36
NG_009073.1:g.63574G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1937+1G>A MANE Select	ENSP00000359245.3:n.1937+1G>A
ENST00000649773.1:c.1937+1G>A	ENSP00000496882.1:n.1937+1G>A
ENST00000370225.3:c.1937+1G>A	ENSP00000359245.3:n.1937+1G>A
ENST00000536513.5:c.-65+598G>A	ENSP00000439707.2:n.-65+598G>A
NM_000350.2:c.1937+1G>A	NP_000341.2:n.1937+1G>A
NM_000350.3:c.1937+1G>A MANE Select	NP_000341.2:n.1937+1G>A