Canonical Allele Identifier: CA4446177

Gene: FOXP2

Linked Data

• dbSNP Id: rs780584176
• ExAC: 7:114302134 T / C
• gnomAD v2: 7-114302134-T-C
• gnomAD v4: 7-114662079-T-C
• MyVariant Identifiers: chr7:g.114302134T>C (hg19) ; chr7:g.114662079T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.114662079T>C , CM000669.2:g.114662079T>C	GRCh38
NC_000007.13:g.114302134T>C , CM000669.1:g.114302134T>C	GRCh37
NC_000007.12:g.114089370T>C	NCBI36
NG_007491.2:g.580770T>C
NG_007491.3:g.580770T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000403559.9:c.1713T>C	ENSP00000385069.4:p.His571=
ENST00000703612.1:c.1653T>C	ENSP00000515396.1:p.His551=
ENST00000703613.1:c.1713T>C	ENSP00000515397.1:p.His571=
ENST00000703614.1:c.1662T>C	ENSP00000515398.1:p.His554=
ENST00000703616.1:c.1788T>C	ENSP00000515400.1:p.His596=
ENST00000703617.1:c.1107T>C	ENSP00000515401.1:p.His369=
ENST00000703618.1:c.559T>C
ENST00000350908.9:c.1662T>C MANE Select	ENSP00000265436.7:p.His554=
ENST00000393489.8:c.*1456T>C	ENSP00000377129.4:n.*1456T>C
ENST00000350908.8:c.1662T>C	ENSP00000265436.7:p.His554=
ENST00000393489.7:c.1386T>C	ENSP00000377129.3:p.His462=
ENST00000393491.7:c.1107T>C	ENSP00000377130.3:p.His369=
ENST00000393494.6:c.1662T>C	ENSP00000377132.2:p.His554=
ENST00000393498.6:c.1599T>C	ENSP00000377135.2:p.His533=
ENST00000403559.8:c.1713T>C	ENSP00000385069.4:p.His571=
ENST00000408937.7:c.1737T>C	ENSP00000386200.3:p.His579=
ENST00000412402.5:c.*1380T>C	ENSP00000405470.1:n.*1380T>C
ENST00000441290.6:c.*1662T>C	ENSP00000416825.1:n.*1662T>C
ENST00000634411.1:c.1611T>C	ENSP00000489135.1:p.His537=
ENST00000634623.1:c.1602T>C	ENSP00000488944.1:p.His534=
ENST00000634664.1:n.137T>C
ENST00000635109.1:c.*1459T>C	ENSP00000489457.1:n.*1459T>C
ENST00000635534.1:c.1653T>C	ENSP00000489229.1:p.His551=
ENST00000635638.1:c.1665T>C	ENSP00000489073.1:p.His555=
NM_001172766.2:c.1659T>C	NP_001166237.1:p.His553=
NM_014491.3:c.1662T>C	NP_055306.1:p.His554=
NM_148898.3:c.1737T>C	NP_683696.2:p.His579=
NM_148900.3:c.1713T>C	NP_683698.2:p.His571=
NR_033766.1:n.2047T>C
NR_033767.1:n.2094T>C
XM_011516706.1:c.1806T>C	XP_011515008.1:p.His602=
XM_017012801.2:c.1737T>C	XP_016868290.1:p.His579=
NM_014491.4:c.1662T>C MANE Select	NP_055306.1:p.His554=
NM_001172766.3:c.1659T>C	NP_001166237.1:p.His553=
NM_148898.4:c.1737T>C	NP_683696.2:p.His579=
NR_033766.2:n.2030T>C
NR_033767.2:n.2276T>C
NM_148900.4:c.1713T>C	NP_683698.2:p.His571=