Canonical Allele Identifier: CA418812114
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94467471G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001915G>A , CM000663.2:g.94001915G>A GRCh38
NC_000001.10:g.94467471G>A , CM000663.1:g.94467471G>A GRCh37
NC_000001.9:g.94240059G>A NCBI36
NG_009073.1:g.124235C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6225C>T MANE Select ENSP00000359245.3:p.Asn2075=
ENST00000370225.3:c.6225C>T ENSP00000359245.3:p.Asn2075=
ENST00000465352.1:n.641C>T
ENST00000536513.5:c.2601C>T ENSP00000439707.2:p.Asn867=
NM_000350.2:c.6225C>T NP_000341.2:p.Asn2075=
NM_000350.3:c.6225C>T MANE Select NP_000341.2:p.Asn2075=