Canonical Allele Identifier: CA227268
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94019722C>T
GRCh37 chr1:g.94485278C>T
Revel Score:
ENST00000546054 0.790
ENST00000370225 (MANE Select) 0.790
gnomAD v2:
1:94485278 C / T
gnomAD v3:
1:94019722 C / T
gnomAD v4:
chr1-94019722-C-T
Joint Max Group AF 0.00130421 (AFR)
Genomes Max Group AF 0.00132278 (AFR)
Exomes Max Group AF 0.0010842 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94019722C>T , CM000663.2:g.94019722C>T GRCh38
NC_000001.10:g.94485278C>T , CM000663.1:g.94485278C>T GRCh37
NC_000001.9:g.94257866C>T NCBI36
NG_009073.1:g.106428G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5056G>A MANE Select ENSP00000359245.3:p.Val1686Met
ENST00000370225.3:c.5056G>A ENSP00000359245.3:p.Val1686Met
ENST00000460514.1:n.550G>A
ENST00000470771.1:n.166G>A
ENST00000536513.5:c.1432G>A ENSP00000439707.2:p.Val478Met
NM_000350.2:c.5056G>A NP_000341.2:p.Val1686Met
NM_000350.3:c.5056G>A MANE Select NP_000341.2:p.Val1686Met
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