Canonical Allele Identifier: CA1181407223

Gene: ABCA4

Linked Data

• dbSNP Id: rs4147900
• gnomAD v4: 1-94010648-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94010648T>A , CM000663.2:g.94010648T>A	GRCh38
NC_000001.10:g.94476204T>A , CM000663.1:g.94476204T>A	GRCh37
NC_000001.9:g.94248792T>A	NCBI36
NG_009073.1:g.115502A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5714+152A>T MANE Select	ENSP00000359245.3:n.5714+152A>T
ENST00000370225.3:c.5714+152A>T	ENSP00000359245.3:n.5714+152A>T
ENST00000465352.1:n.130+152A>T
ENST00000536513.5:c.2090+152A>T	ENSP00000439707.2:n.2090+152A>T
NM_000350.2:c.5714+152A>T	NP_000341.2:n.5714+152A>T
NM_000350.3:c.5714+152A>T MANE Select	NP_000341.2:n.5714+152A>T