Canonical Allele Identifier: CA2646651281
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1464036233
gnomAD v4: 1-94060495-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060495C>T , CM000663.2:g.94060495C>T GRCh38
NC_000001.10:g.94526051C>T , CM000663.1:g.94526051C>T GRCh37
NC_000001.9:g.94298639C>T NCBI36
NG_009073.1:g.65655G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2160+42G>A MANE Select ENSP00000359245.3:n.2160+42G>A
ENST00000649773.1:c.2160+42G>A ENSP00000496882.1:n.2160+42G>A
ENST00000370225.3:c.2160+42G>A ENSP00000359245.3:n.2160+42G>A
ENST00000472033.1:n.280+42G>A
ENST00000536513.5:c.-65+2679G>A ENSP00000439707.2:n.-65+2679G>A
NM_000350.2:c.2160+42G>A NP_000341.2:n.2160+42G>A
NM_000350.3:c.2160+42G>A MANE Select NP_000341.2:n.2160+42G>A
Search 100 bp 5'
Search 100 bp 3'