Canonical Allele Identifier: CA226973

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99114
• ClinVar RCV Id: RCV000085458 ; RCV000210310 ; RCV000408512 ; RCV000504983 ; RCV001073628 ; RCV001195987
• dbSNP Id: rs61749423
• ExAC: 1:94526212 G / A
• gnomAD v2: 1-94526212-G-A
• gnomAD v3: 1-94060656-G-A
• gnomAD v4: 1-94060656-G-A
• MyVariant Identifiers: chr1:g.94526212G>A (hg19) ; chr1:g.94060656G>A (hg38)
• PubMed: PMID:10090887 ; PMID:19074458 ; PMID:24342785 ; PMID:24713488 ; PMID:25525159 ; PMID:25544989 ; PMID:26872967 ; PMID:28041643 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060656G>A , CM000663.2:g.94060656G>A	GRCh38
NC_000001.10:g.94526212G>A , CM000663.1:g.94526212G>A	GRCh37
NC_000001.9:g.94298800G>A	NCBI36
NG_009073.1:g.65494C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2041C>T MANE Select	ENSP00000359245.3:p.Arg681Ter
ENST00000649773.1:c.2041C>T	ENSP00000496882.1:p.Arg681Ter
ENST00000370225.3:c.2041C>T	ENSP00000359245.3:p.Arg681Ter
ENST00000472033.1:n.161C>T
ENST00000536513.5:c.-65+2518C>T	ENSP00000439707.2:n.-65+2518C>T
NM_000350.2:c.2041C>T	NP_000341.2:p.Arg681Ter
NM_000350.3:c.2041C>T MANE Select	NP_000341.2:p.Arg681Ter