Canonical Allele Identifier: CA341277964
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94056749-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056749A>T , CM000663.2:g.94056749A>T GRCh38
NC_000001.10:g.94522305A>T , CM000663.1:g.94522305A>T GRCh37
NC_000001.9:g.94294893A>T NCBI36
NG_009073.1:g.69401T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2234T>A MANE Select ENSP00000359245.3:p.Ile745Asn
ENST00000649773.1:c.2161-1434T>A ENSP00000496882.1:n.2161-1434T>A
ENST00000370225.3:c.2234T>A ENSP00000359245.3:p.Ile745Asn
ENST00000536513.5:c.-65+6425T>A ENSP00000439707.2:n.-65+6425T>A
NM_000350.2:c.2234T>A NP_000341.2:p.Ile745Asn
NM_000350.3:c.2234T>A MANE Select NP_000341.2:p.Ile745Asn