Canonical Allele Identifier: CA258396607
Gene: FOXG1 HGNC NCBI

Linked Data

dbSNP Id: rs377726805
gnomAD v2: 14-29237973-T-C
gnomAD v3: 14-28768767-T-C
gnomAD v4: 14-28768767-T-C
MyVariant Identifiers: chr14:g.29237973T>C (hg19) chr14:g.28768767T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768767T>C , CM000676.2:g.28768767T>C GRCh38
NC_000014.8:g.29237973T>C , CM000676.1:g.29237973T>C GRCh37
NC_000014.7:g.28307724T>C NCBI36
NG_009367.1:g.6687T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.*18T>C ENSP00000516406.1:n.*18T>C
ENST00000313071.7:c.*18T>C MANE Select ENSP00000339004.3:n.*18T>C
ENST00000313071.6:c.*18T>C ENSP00000339004.3:n.*18T>C
NM_005249.4:c.*18T>C NP_005240.3:n.*18T>C
NM_005249.5:c.*18T>C MANE Select NP_005240.3:n.*18T>C
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