Canonical Allele Identifier: CA1181408401
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021522C= , CM000663.2:g.94021522C= GRCh38
NC_000001.10:g.94487078C= , CM000663.1:g.94487078C= GRCh37
NC_000001.9:g.94259666C= NCBI36
NG_009073.1:g.104628G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4849-113G= MANE Select ENSP00000359245.3:n.4849-113G=
ENST00000370225.3:c.4849-113G= ENSP00000359245.3:n.4849-113G=
ENST00000460514.1:n.343-113G=
ENST00000536513.5:c.1225-113G= ENSP00000439707.2:n.1225-113G=
NM_000350.2:c.4849-113G= NP_000341.2:n.4849-113G=
NM_000350.3:c.4849-113G= MANE Select NP_000341.2:n.4849-113G=