Canonical Allele Identifier: CA2646649998
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94031700-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031700G>A , CM000663.2:g.94031700G>A GRCh38
NC_000001.10:g.94497256G>A , CM000663.1:g.94497256G>A GRCh37
NC_000001.9:g.94269844G>A NCBI36
NG_009073.1:g.94450C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4128+78C>T MANE Select ENSP00000359245.3:n.4128+78C>T
ENST00000370225.3:c.4128+78C>T ENSP00000359245.3:n.4128+78C>T
ENST00000536513.5:c.504+78C>T ENSP00000439707.2:n.504+78C>T
NM_000350.2:c.4128+78C>T NP_000341.2:n.4128+78C>T
NM_000350.3:c.4128+78C>T MANE Select NP_000341.2:n.4128+78C>T