Canonical Allele Identifier: CA341279300

Gene: ABCA4

Linked Data

• COSMIC: COSM1688059 ; COSM3493494
• MyVariant Identifiers: chr1:g.94528173A>T (hg19) ; chr1:g.94062617A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062617A>T , CM000663.2:g.94062617A>T	GRCh38
NC_000001.10:g.94528173A>T , CM000663.1:g.94528173A>T	GRCh37
NC_000001.9:g.94300761A>T	NCBI36
NG_009073.1:g.63533T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1897T>A MANE Select	ENSP00000359245.3:p.Tyr633Asn
ENST00000649773.1:c.1897T>A	ENSP00000496882.1:p.Tyr633Asn
ENST00000370225.3:c.1897T>A	ENSP00000359245.3:p.Tyr633Asn
ENST00000536513.5:c.-65+557T>A	ENSP00000439707.2:n.-65+557T>A
NM_000350.2:c.1897T>A	NP_000341.2:p.Tyr633Asn
NM_000350.3:c.1897T>A MANE Select	NP_000341.2:p.Tyr633Asn