Canonical Allele Identifier: CA389476001

Gene: FOXG1

Linked Data

• MyVariant Identifiers: chr14:g.29237336T>G (hg19) ; chr14:g.28768130T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.28768130T>G , CM000676.2:g.28768130T>G	GRCh38
NC_000014.8:g.29237336T>G , CM000676.1:g.29237336T>G	GRCh37
NC_000014.7:g.28307087T>G	NCBI36
NG_009367.1:g.6050T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706482.1:c.851T>G	ENSP00000516406.1:p.Leu284Arg
ENST00000313071.7:c.851T>G MANE Select	ENSP00000339004.3:p.Leu284Arg
ENST00000313071.6:c.851T>G	ENSP00000339004.3:p.Leu284Arg
NM_005249.4:c.851T>G	NP_005240.3:p.Leu284Arg
NM_005249.5:c.851T>G MANE Select	NP_005240.3:p.Leu284Arg