Canonical Allele Identifier: CA341279348

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94473192C>A (hg19) ; chr1:g.94007636C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94007636C>A , CM000663.2:g.94007636C>A	GRCh38
NC_000001.10:g.94473192C>A , CM000663.1:g.94473192C>A	GRCh37
NC_000001.9:g.94245780C>A	NCBI36
NG_009073.1:g.118514G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6003G>T MANE Select	ENSP00000359245.3:p.Lys2001Asn
ENST00000370225.3:c.6003G>T	ENSP00000359245.3:p.Lys2001Asn
ENST00000465352.1:n.419G>T
ENST00000484388.1:n.117G>T
ENST00000536513.5:c.2379G>T	ENSP00000439707.2:p.Lys793Asn
NM_000350.2:c.6003G>T	NP_000341.2:p.Lys2001Asn
NM_000350.3:c.6003G>T MANE Select	NP_000341.2:p.Lys2001Asn