Canonical Allele Identifier: CA227135
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94037200G>A
GRCh37 chr1:g.94502756G>A
Revel Score:
ENST00000546054 0.647
ENST00000370225 (MANE Select) 0.647
gnomAD v2:
1:94502756 G / A
gnomAD v3:
1:94037200 G / A
gnomAD v4:
chr1-94037200-G-A
Joint Max Group AF 0.00004368 (SAS)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00004578 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94037200G>A , CM000663.2:g.94037200G>A GRCh38
NC_000001.10:g.94502756G>A , CM000663.1:g.94502756G>A GRCh37
NC_000001.9:g.94275344G>A NCBI36
NG_009073.1:g.88950C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3758C>T MANE Select ENSP00000359245.3:p.Thr1253Met
ENST00000370225.3:c.3758C>T ENSP00000359245.3:p.Thr1253Met
ENST00000536513.5:c.134C>T ENSP00000439707.2:p.Thr45Met
NM_000350.2:c.3758C>T NP_000341.2:p.Thr1253Met
NM_000350.3:c.3758C>T MANE Select NP_000341.2:p.Thr1253Met
Search 100 bp 5'
Search 100 bp 3'