Canonical Allele Identifier: CA1140725918

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047033A= , CM000663.2:g.94047033A=	GRCh38
NC_000001.10:g.94512589A= , CM000663.1:g.94512589A=	GRCh37
NC_000001.9:g.94285177A=	NCBI36
NG_009073.1:g.79117T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2804T= MANE Select	ENSP00000359245.3:p.Val935=
ENST00000649773.1:c.2582T=	ENSP00000496882.1:p.Val861=
ENST00000370225.3:c.2804T=	ENSP00000359245.3:p.Val935=
ENST00000536513.5:c.-64-6944T=	ENSP00000439707.2:n.-64-6944T=
NM_000350.2:c.2804T=	NP_000341.2:p.Val935=
NM_000350.3:c.2804T= MANE Select	NP_000341.2:p.Val935=