Canonical Allele Identifier: CA341275616

Gene: ABCA4

Linked Data

• COSMIC: COSM6127814 ; COSM6127815
• MyVariant Identifiers: chr1:g.94512642G>T (hg19) ; chr1:g.94047086G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047086G>T , CM000663.2:g.94047086G>T	GRCh38
NC_000001.10:g.94512642G>T , CM000663.1:g.94512642G>T	GRCh37
NC_000001.9:g.94285230G>T	NCBI36
NG_009073.1:g.79064C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2751C>A MANE Select	ENSP00000359245.3:p.Phe917Leu
ENST00000649773.1:c.2529C>A	ENSP00000496882.1:p.Phe843Leu
ENST00000370225.3:c.2751C>A	ENSP00000359245.3:p.Phe917Leu
ENST00000536513.5:c.-64-6997C>A	ENSP00000439707.2:n.-64-6997C>A
NM_000350.2:c.2751C>A	NP_000341.2:p.Phe917Leu
NM_000350.3:c.2751C>A MANE Select	NP_000341.2:p.Phe917Leu