Canonical Allele Identifier: CA4446485

Gene: FOXP2

Linked Data

• ClinVar Variation Id: 358658
• ClinVar RCV Id: RCV000388887
• dbSNP Id: rs532545326
• ExAC: 7:114332799 G / C
• gnomAD v2: 7-114332799-G-C
• gnomAD v3: 7-114692744-G-C
• gnomAD v4: 7-114692744-G-C
• MyVariant Identifiers: chr7:g.114332799G>C (hg19) ; chr7:g.114692744G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.114692744G>C , CM000669.2:g.114692744G>C	GRCh38
NC_000007.13:g.114332799G>C , CM000669.1:g.114332799G>C	GRCh37
NC_000007.12:g.114120035G>C	NCBI36
NG_007491.2:g.611435G>C
NG_007491.3:g.611435G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350908.9:c.*2818G>C MANE Select	ENSP00000265436.7:n.*2818G>C
ENST00000393491.7:c.*2818G>C	ENSP00000377130.3:n.*2818G>C
ENST00000403559.8:c.*2818G>C	ENSP00000385069.4:n.*2818G>C
ENST00000408937.7:c.*2818G>C	ENSP00000386200.3:n.*2818G>C
NM_001172766.2:c.*2818G>C	NP_001166237.1:n.*2818G>C
NM_014491.3:c.*2818G>C	NP_055306.1:n.*2818G>C
NM_148898.3:c.*2818G>C	NP_683696.2:n.*2818G>C
NM_148900.3:c.*2818G>C	NP_683698.2:n.*2818G>C
NR_033766.1:n.5351G>C
NR_033767.1:n.5398G>C
XM_011516706.1:c.*2818G>C	XP_011515008.1:n.*2818G>C
XM_017012801.2:c.*2818G>C	XP_016868290.1:n.*2818G>C
NM_014491.4:c.*2818G>C MANE Select	NP_055306.1:n.*2818G>C
NM_001172766.3:c.*2818G>C	NP_001166237.1:n.*2818G>C
NM_148898.4:c.*2818G>C	NP_683696.2:n.*2818G>C
NR_033766.2:n.5334G>C
NR_033767.2:n.5580G>C
NM_148900.4:c.*2818G>C	NP_683698.2:n.*2818G>C