Canonical Allele Identifier: CA957164

Gene: ABCA4

Linked Data

• dbSNP Id: rs199968671
• ExAC: 1:94476309 T / G
• gnomAD v2: 1-94476309-T-G
• gnomAD v3: 1-94010753-T-G
• gnomAD v4: 1-94010753-T-G
• MyVariant Identifiers: chr1:g.94476309T>G (hg19) ; chr1:g.94010753T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94010753T>G , CM000663.2:g.94010753T>G	GRCh38
NC_000001.10:g.94476309T>G , CM000663.1:g.94476309T>G	GRCh37
NC_000001.9:g.94248897T>G	NCBI36
NG_009073.1:g.115397A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.5714+47A>C MANE Select	ENSP00000359245.3:n.5714+47A>C
ENST00000370225.3:c.5714+47A>C	ENSP00000359245.3:n.5714+47A>C
ENST00000465352.1:n.130+47A>C
ENST00000536513.5:c.2090+47A>C	ENSP00000439707.2:n.2090+47A>C
NM_000350.2:c.5714+47A>C	NP_000341.2:n.5714+47A>C
NM_000350.3:c.5714+47A>C MANE Select	NP_000341.2:n.5714+47A>C