Canonical Allele Identifier: CA227206
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94029446T>C
GRCh38 chr1:g.94029446_94029447delinsCG
GRCh37 chr1:g.94495002T>C
GRCh37 chr1:g.94495002_94495003delinsCG
Revel Score:
ENST00000546054 0.794
ENST00000370225 (MANE Select) 0.794
gnomAD v2:
1:94495002 T / C
gnomAD v3:
1:94029446 T / C
gnomAD v4:
chr1-94029446-T-C
Joint Max Group AF 0.00001088 (AFR)
Genomes Max Group AF 0.000008 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029446T>C , CM000663.2:g.94029446T>C GRCh38
NC_000001.10:g.94495002T>C , CM000663.1:g.94495002T>C GRCh37
NC_000001.9:g.94267590T>C NCBI36
NG_009073.1:g.96704A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4538A>G MANE Select ENSP00000359245.3:p.Gln1513Arg
ENST00000370225.3:c.4538A>G ENSP00000359245.3:p.Gln1513Arg
ENST00000536513.5:c.914A>G ENSP00000439707.2:p.Gln305Arg
NM_000350.2:c.4538A>G NP_000341.2:p.Gln1513Arg
NM_000350.3:c.4538A>G MANE Select NP_000341.2:p.Gln1513Arg
Search 100 bp 5'
Search 100 bp 3'