Canonical Allele Identifier: CA418813837

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94473201T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94007645T>G , CM000663.2:g.94007645T>G	GRCh38
NC_000001.10:g.94473201T>G , CM000663.1:g.94473201T>G	GRCh37
NC_000001.9:g.94245789T>G	NCBI36
NG_009073.1:g.118505A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5994A>C MANE Select	ENSP00000359245.3:p.Val1998=
ENST00000370225.3:c.5994A>C	ENSP00000359245.3:p.Val1998=
ENST00000465352.1:n.410A>C
ENST00000484388.1:n.108A>C
ENST00000536513.5:c.2370A>C	ENSP00000439707.2:p.Val790=
NM_000350.2:c.5994A>C	NP_000341.2:p.Val1998=
NM_000350.3:c.5994A>C MANE Select	NP_000341.2:p.Val1998=