Canonical Allele Identifier: CA389475982
Gene: FOXG1 HGNC NCBI

Linked Data

dbSNP Id: rs1881810287
COSMIC: COSM6075627
MyVariant Identifiers: chr14:g.29237327G>C (hg19) chr14:g.28768121G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768121G>C , CM000676.2:g.28768121G>C GRCh38
NC_000014.8:g.29237327G>C , CM000676.1:g.29237327G>C GRCh37
NC_000014.7:g.28307078G>C NCBI36
NG_009367.1:g.6041G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.842G>C ENSP00000516406.1:p.Arg281Pro
ENST00000313071.7:c.842G>C MANE Select ENSP00000339004.3:p.Arg281Pro
ENST00000313071.6:c.842G>C ENSP00000339004.3:p.Arg281Pro
NM_005249.4:c.842G>C NP_005240.3:p.Arg281Pro
NM_005249.5:c.842G>C MANE Select NP_005240.3:p.Arg281Pro
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