Canonical Allele Identifier: CA341283640
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021678C>T , CM000663.2:g.94021678C>T GRCh38
NC_000001.10:g.94487234C>T , CM000663.1:g.94487234C>T GRCh37
NC_000001.9:g.94259822C>T NCBI36
NG_009073.1:g.104472G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4810G>A MANE Select ENSP00000359245.3:p.Asp1604Asn
ENST00000370225.3:c.4810G>A ENSP00000359245.3:p.Asp1604Asn
ENST00000460514.1:n.304G>A
ENST00000536513.5:c.1186G>A ENSP00000439707.2:p.Asp396Asn
NM_000350.2:c.4810G>A NP_000341.2:p.Asp1604Asn
NM_000350.3:c.4810G>A MANE Select NP_000341.2:p.Asp1604Asn