Canonical Allele Identifier: CA956996

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 1948836
• ClinVar RCV Id: RCV002668047
• dbSNP Id: rs748905369
• ExAC: 1:94467520 C / T
• gnomAD v2: 1-94467520-C-T
• gnomAD v3: 1-94001964-C-T
• gnomAD v4: 1-94001964-C-T
• MyVariant Identifiers: chr1:g.94467520C>T (hg19) ; chr1:g.94001964C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001964C>T , CM000663.2:g.94001964C>T	GRCh38
NC_000001.10:g.94467520C>T , CM000663.1:g.94467520C>T	GRCh37
NC_000001.9:g.94240108C>T	NCBI36
NG_009073.1:g.124186G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6176G>A MANE Select	ENSP00000359245.3:p.Gly2059Asp
ENST00000370225.3:c.6176G>A	ENSP00000359245.3:p.Gly2059Asp
ENST00000465352.1:n.592G>A
ENST00000536513.5:c.2552G>A	ENSP00000439707.2:p.Gly851Asp
NM_000350.2:c.6176G>A	NP_000341.2:p.Gly2059Asp
NM_000350.3:c.6176G>A MANE Select	NP_000341.2:p.Gly2059Asp