Canonical Allele Identifier: CA341278632

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94526194T>A (hg19) ; chr1:g.94060638T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060638T>A , CM000663.2:g.94060638T>A	GRCh38
NC_000001.10:g.94526194T>A , CM000663.1:g.94526194T>A	GRCh37
NC_000001.9:g.94298782T>A	NCBI36
NG_009073.1:g.65512A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2059A>T MANE Select	ENSP00000359245.3:p.Lys687Ter
ENST00000649773.1:c.2059A>T	ENSP00000496882.1:p.Lys687Ter
ENST00000370225.3:c.2059A>T	ENSP00000359245.3:p.Lys687Ter
ENST00000472033.1:n.179A>T
ENST00000536513.5:c.-65+2536A>T	ENSP00000439707.2:n.-65+2536A>T
NM_000350.2:c.2059A>T	NP_000341.2:p.Lys687Ter
NM_000350.3:c.2059A>T MANE Select	NP_000341.2:p.Lys687Ter