Canonical Allele Identifier: CA7140695
Gene: FOXG1 HGNC NCBI

Linked Data

dbSNP Id: rs752282095
ExAC: 14:29237928 GTCT / G
MyVariant Identifiers: chr14:g.29237929_29237931del (hg19) chr14:g.28768723_28768725del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768728_28768730del , CM000676.2:g.28768728_28768730del GRCh38
NC_000014.8:g.29237934_29237936del , CM000676.1:g.29237934_29237936del GRCh37
NC_000014.7:g.28307685_28307687del NCBI36
NG_009367.1:g.6648_6650del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.1449_1451del ENSP00000516406.1:p.Ser484del
ENST00000313071.7:c.1449_1451del MANE Select ENSP00000339004.3:p.Ser484del
ENST00000313071.6:c.1449_1451del ENSP00000339004.3:p.Ser484del
NM_005249.4:c.1449_1451del NP_005240.3:p.Ser484del
NM_005249.5:c.1449_1451del MANE Select NP_005240.3:p.Ser484del
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