Canonical Allele Identifier: CA341282909

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94486806C>A (hg19) ; chr1:g.94021250C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021250C>A , CM000663.2:g.94021250C>A	GRCh38
NC_000001.10:g.94486806C>A , CM000663.1:g.94486806C>A	GRCh37
NC_000001.9:g.94259394C>A	NCBI36
NG_009073.1:g.104900G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5008G>T MANE Select	ENSP00000359245.3:p.Glu1670Ter
ENST00000370225.3:c.5008G>T	ENSP00000359245.3:p.Glu1670Ter
ENST00000460514.1:n.502G>T
ENST00000470771.1:n.118G>T
ENST00000536513.5:c.1384G>T	ENSP00000439707.2:p.Glu462Ter
NM_000350.2:c.5008G>T	NP_000341.2:p.Glu1670Ter
NM_000350.3:c.5008G>T MANE Select	NP_000341.2:p.Glu1670Ter