Canonical Allele Identifier: CA957648
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94030427C>T
GRCh37 chr1:g.94495983C>T
gnomAD v2:
1:94495983 C / T
gnomAD v3:
1:94030427 C / T
gnomAD v4:
chr1-94030427-C-T
Joint Max Group AF 0.00000442 (AFR)
Genomes Max Group AF 0.00000797 (AFR)
Exomes Max Group AF 0.00000385 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030427C>T , CM000663.2:g.94030427C>T GRCh38
NC_000001.10:g.94495983C>T , CM000663.1:g.94495983C>T GRCh37
NC_000001.9:g.94268571C>T NCBI36
NG_009073.1:g.95723G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4352+1G>A MANE Select ENSP00000359245.3:n.4352+1G>A
ENST00000370225.3:c.4352+1G>A ENSP00000359245.3:n.4352+1G>A
ENST00000536513.5:c.728+1G>A ENSP00000439707.2:n.728+1G>A
NM_000350.2:c.4352+1G>A NP_000341.2:n.4352+1G>A
NM_000350.3:c.4352+1G>A MANE Select NP_000341.2:n.4352+1G>A
Search 100 bp 5'
Search 100 bp 3'