Canonical Allele Identifier: CA958501

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 283387
• ClinVar RCV Id: RCV000264059 ; RCV000270788 ; RCV000512657 ; RCV000328209 ; RCV000844930 ; RCV000385092 ; RCV001073584 ; RCV001102037 ; RCV000505101
• dbSNP Id: rs140482171
• ExAC: 1:94543268 C / T
• gnomAD v2: 1-94543268-C-T
• gnomAD v3: 1-94077712-C-T
• gnomAD v4: 1-94077712-C-T
• COSMIC: COSM1181247
• MyVariant Identifiers: chr1:g.94543268C>T (hg19) ; chr1:g.94077712C>T (hg38)
• PubMed: PMID:22661472 ; PMID:23891399 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94077712C>T , CM000663.2:g.94077712C>T	GRCh38
NC_000001.10:g.94543268C>T , CM000663.1:g.94543268C>T	GRCh37
NC_000001.9:g.94315856C>T	NCBI36
NG_009073.1:g.48438G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1532G>A MANE Select	ENSP00000359245.3:p.Arg511His
ENST00000649773.1:c.1532G>A	ENSP00000496882.1:p.Arg511His
ENST00000370225.3:c.1532G>A	ENSP00000359245.3:p.Arg511His
NM_000350.2:c.1532G>A	NP_000341.2:p.Arg511His
NM_000350.3:c.1532G>A MANE Select	NP_000341.2:p.Arg511His