Canonical Allele Identifier: CA2646653709
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94111729-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111729G>A , CM000663.2:g.94111729G>A GRCh38
NC_000001.10:g.94577285G>A , CM000663.1:g.94577285G>A GRCh37
NC_000001.9:g.94349873G>A NCBI36
NG_009073.1:g.14421C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.161-150C>T MANE Select ENSP00000359245.3:n.161-150C>T
ENST00000649773.1:c.161-150C>T ENSP00000496882.1:n.161-150C>T
ENST00000370225.3:c.161-150C>T ENSP00000359245.3:n.161-150C>T
NM_000350.2:c.161-150C>T NP_000341.2:n.161-150C>T
NM_000350.3:c.161-150C>T MANE Select NP_000341.2:n.161-150C>T