Canonical Allele Identifier: CA7302443

Gene: TTC8

Linked Data

• ClinVar Variation Id: 314799
• ClinVar RCV Id: RCV000263140 ; RCV000373889 ; RCV001519327
• dbSNP Id: rs187484893
• ExAC: 14:89307366 T / A
• gnomAD v2: 14-89307366-T-A
• gnomAD v3: 14-88841022-T-A
• gnomAD v4: 14-88841022-T-A
• MyVariant Identifiers: chr14:g.89307366T>A (hg19) ; chr14:g.88841022T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88841022T>A , CM000676.2:g.88841022T>A	GRCh38
NC_000014.8:g.89307366T>A , CM000676.1:g.89307366T>A	GRCh37
NC_000014.7:g.88377119T>A	NCBI36
NG_008126.1:g.21389T>A
NG_008126.2:g.21870T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380656.7:c.330-15T>A MANE Select	ENSP00000370031.2:n.330-15T>A
ENST00000338104.10:c.300-15T>A	ENSP00000337653.6:n.300-15T>A
ENST00000345383.9:c.330-15T>A	ENSP00000339486.6:n.330-15T>A
ENST00000346301.8:c.300-15T>A	ENSP00000298324.6:n.300-15T>A
ENST00000354441.10:c.114+16201T>A	ENSP00000346427.6:n.114+16201T>A
ENST00000358622.9:c.-263-15T>A	ENSP00000351439.5:n.-263-15T>A
ENST00000380656.6:c.330-15T>A	ENSP00000370031.2:n.330-15T>A
ENST00000536576.5:c.300-15T>A	ENSP00000445067.2:n.300-15T>A
ENST00000554686.5:c.269-15T>A
ENST00000555057.5:c.300-15T>A	ENSP00000450951.1:n.300-15T>A
ENST00000556077.5:c.454-15T>A	ENSP00000451034.1:n.454-15T>A
ENST00000556133.1:n.91-15T>A
ENST00000556567.5:n.357-15T>A
ENST00000556651.5:c.300-15T>A	ENSP00000450993.1:n.300-15T>A
ENST00000614125.4:c.300-15T>A	ENSP00000482306.1:n.300-15T>A
ENST00000622513.4:c.300-15T>A	ENSP00000482721.1:n.300-15T>A
NM_001288781.1:c.300-15T>A	NP_001275710.1:n.300-15T>A
NM_001288782.1:c.-263-15T>A	NP_001275711.1:n.-263-15T>A
NM_001288783.1:c.-358-15T>A	NP_001275712.1:n.-358-15T>A
NM_144596.3:c.330-15T>A	NP_653197.2:n.330-15T>A
NM_198309.3:c.300-15T>A	NP_938051.1:n.300-15T>A
NM_198310.3:c.300-15T>A	NP_938052.1:n.300-15T>A
XM_006720035.1:c.300-15T>A	XP_006720098.1:n.300-15T>A
XM_006720037.2:c.300-15T>A	XP_006720100.1:n.300-15T>A
XM_011536432.1:c.300-15T>A	XP_011534734.1:n.300-15T>A
XM_011536433.1:c.300-15T>A	XP_011534735.1:n.300-15T>A
XM_011536434.1:c.300-15T>A	XP_011534736.1:n.300-15T>A
XM_011536435.1:c.-448-15T>A	XP_011534737.1:n.-448-15T>A
NM_001366535.1:c.300-15T>A	NP_001353464.1:n.300-15T>A
NM_001366536.1:c.300-15T>A	NP_001353465.1:n.300-15T>A
NR_159362.1:n.357-15T>A
XM_011536433.2:c.300-15T>A	XP_011534735.1:n.300-15T>A
XM_011536434.2:c.300-15T>A	XP_011534736.1:n.300-15T>A
XM_024449477.1:c.-448-15T>A	XP_024305245.1:n.-448-15T>A
NM_001366535.2:c.300-15T>A	NP_001353464.1:n.300-15T>A
NM_001366536.2:c.300-15T>A	NP_001353465.1:n.300-15T>A
NR_159362.2:n.357-15T>A
NM_144596.4:c.330-15T>A MANE Select	NP_653197.2:n.330-15T>A