Canonical Allele Identifier: CA341279290
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94062614-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062614G>A , CM000663.2:g.94062614G>A GRCh38
NC_000001.10:g.94528170G>A , CM000663.1:g.94528170G>A GRCh37
NC_000001.9:g.94300758G>A NCBI36
NG_009073.1:g.63536C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1900C>T MANE Select ENSP00000359245.3:p.Leu634Phe
ENST00000649773.1:c.1900C>T ENSP00000496882.1:p.Leu634Phe
ENST00000370225.3:c.1900C>T ENSP00000359245.3:p.Leu634Phe
ENST00000536513.5:c.-65+560C>T ENSP00000439707.2:n.-65+560C>T
NM_000350.2:c.1900C>T NP_000341.2:p.Leu634Phe
NM_000350.3:c.1900C>T MANE Select NP_000341.2:p.Leu634Phe