Canonical Allele Identifier: CA226908

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99065
• ClinVar RCV Id: RCV000085408 ; RCV000210980 ; RCV000826094 ; RCV004529882
• dbSNP Id: rs150774447
• ExAC: 1:94577135 C / T
• gnomAD v2: 1-94577135-C-T
• gnomAD v3: 1-94111579-C-T
• gnomAD v4: 1-94111579-C-T
• MyVariant Identifiers: chr1:g.94577135C>T (hg19) ; chr1:g.94111579C>T (hg38)
• PubMed: PMID:9973280 ; PMID:19217903 ; PMID:23891399 ; PMID:25082885 ; PMID:25472526 ; PMID:26527198 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111579C>T , CM000663.2:g.94111579C>T	GRCh38
NC_000001.10:g.94577135C>T , CM000663.1:g.94577135C>T	GRCh37
NC_000001.9:g.94349723C>T	NCBI36
NG_009073.1:g.14571G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.161G>A MANE Select	ENSP00000359245.3:p.Cys54Tyr
ENST00000649773.1:c.161G>A	ENSP00000496882.1:p.Cys54Tyr
ENST00000370225.3:c.161G>A	ENSP00000359245.3:p.Cys54Tyr
NM_000350.2:c.161G>A	NP_000341.2:p.Cys54Tyr
NM_000350.3:c.161G>A MANE Select	NP_000341.2:p.Cys54Tyr