Canonical Allele Identifier: CA2646647351
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94021426-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021426A>T , CM000663.2:g.94021426A>T GRCh38
NC_000001.10:g.94486982A>T , CM000663.1:g.94486982A>T GRCh37
NC_000001.9:g.94259570A>T NCBI36
NG_009073.1:g.104724T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4849-17T>A MANE Select ENSP00000359245.3:n.4849-17T>A
ENST00000370225.3:c.4849-17T>A ENSP00000359245.3:n.4849-17T>A
ENST00000460514.1:n.343-17T>A
ENST00000536513.5:c.1225-17T>A ENSP00000439707.2:n.1225-17T>A
NM_000350.2:c.4849-17T>A NP_000341.2:n.4849-17T>A
NM_000350.3:c.4849-17T>A MANE Select NP_000341.2:n.4849-17T>A