Canonical Allele Identifier: CA389475334

Gene: FOXG1

Linked Data

• MyVariant Identifiers: chr14:g.29237032C>T (hg19) ; chr14:g.28767826C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.28767826C>T , CM000676.2:g.28767826C>T	GRCh38
NC_000014.8:g.29237032C>T , CM000676.1:g.29237032C>T	GRCh37
NC_000014.7:g.28306783C>T	NCBI36
NG_009367.1:g.5746C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000706482.1:c.547C>T	ENSP00000516406.1:p.Pro183Ser
ENST00000313071.7:c.547C>T MANE Select	ENSP00000339004.3:p.Pro183Ser
ENST00000313071.6:c.547C>T	ENSP00000339004.3:p.Pro183Ser
NM_005249.4:c.547C>T	NP_005240.3:p.Pro183Ser
NM_005249.5:c.547C>T MANE Select	NP_005240.3:p.Pro183Ser