Canonical Allele Identifier: CA1143652686

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030989C= , CM000663.2:g.94030989C=	GRCh38
NC_000001.10:g.94496545C= , CM000663.1:g.94496545C=	GRCh37
NC_000001.9:g.94269133C=	NCBI36
NG_009073.1:g.95161G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4253+7G= MANE Select	ENSP00000359245.3:n.4253+7G=
ENST00000370225.3:c.4253+7G=	ENSP00000359245.3:n.4253+7G=
ENST00000536513.5:c.629+7G=	ENSP00000439707.2:n.629+7G=
NM_000350.2:c.4253+7G=	NP_000341.2:n.4253+7G=
NM_000350.3:c.4253+7G= MANE Select	NP_000341.2:n.4253+7G=