Canonical Allele Identifier: CA341290542

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94506802T>C (hg19) ; chr1:g.94041246T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041246T>C , CM000663.2:g.94041246T>C	GRCh38
NC_000001.10:g.94506802T>C , CM000663.1:g.94506802T>C	GRCh37
NC_000001.9:g.94279390T>C	NCBI36
NG_009073.1:g.84904A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3485A>G MANE Select	ENSP00000359245.3:p.Lys1162Arg
ENST00000370225.3:c.3485A>G	ENSP00000359245.3:p.Lys1162Arg
ENST00000536513.5:c.-64-1157A>G	ENSP00000439707.2:n.-64-1157A>G
NM_000350.2:c.3485A>G	NP_000341.2:p.Lys1162Arg
NM_000350.3:c.3485A>G MANE Select	NP_000341.2:p.Lys1162Arg