Canonical Allele Identifier: CA7302713

Gene: TTC8

Linked Data

• ClinVar Variation Id: 531831
• ClinVar RCV Id: RCV000638366 ; RCV000765185 ; RCV001117719 ; RCV000787890 ; RCV001117718 ; RCV003928075 ; RCV002533215
• dbSNP Id: rs140698625
• ExAC: 14:89338776 C / T
• gnomAD v2: 14-89338776-C-T
• gnomAD v3: 14-88872432-C-T
• gnomAD v4: 14-88872432-C-T
• MyVariant Identifiers: chr14:g.89338776C>T (hg19) ; chr14:g.88872432C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88872432C>T , CM000676.2:g.88872432C>T	GRCh38
NC_000014.8:g.89338776C>T , CM000676.1:g.89338776C>T	GRCh37
NC_000014.7:g.88408529C>T	NCBI36
NG_008126.1:g.52799C>T
NG_008126.2:g.53280C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380656.7:c.1327C>T MANE Select	ENSP00000370031.2:p.Arg443Trp
ENST00000557580.3:c.692C>T	ENSP00000451955.2:n.692C>T
ENST00000338104.10:c.1375C>T	ENSP00000337653.6:p.Arg459Trp
ENST00000345383.9:c.1327C>T	ENSP00000339486.6:p.Arg443Trp
ENST00000346301.8:c.1207C>T	ENSP00000298324.6:p.Arg403Trp
ENST00000354441.10:c.532C>T	ENSP00000346427.6:p.Arg178Trp
ENST00000358622.9:c.733C>T	ENSP00000351439.5:p.Arg245Trp
ENST00000380656.6:c.1327C>T	ENSP00000370031.2:p.Arg443Trp
ENST00000536576.5:c.1207C>T	ENSP00000445067.2:p.Arg403Trp
ENST00000554686.5:c.1176C>T
ENST00000555057.5:c.*734C>T	ENSP00000450951.1:n.*734C>T
ENST00000557580.2:c.692C>T
ENST00000614125.4:c.1375C>T	ENSP00000482306.1:p.Arg459Trp
ENST00000622513.4:c.1297C>T	ENSP00000482721.1:p.Arg433Trp
NM_001288781.1:c.1375C>T	NP_001275710.1:p.Arg459Trp
NM_001288782.1:c.733C>T	NP_001275711.1:p.Arg245Trp
NM_001288783.1:c.610C>T	NP_001275712.1:p.Arg204Trp
NM_144596.3:c.1327C>T	NP_653197.2:p.Arg443Trp
NM_198309.3:c.1297C>T	NP_938051.1:p.Arg433Trp
NM_198310.3:c.1207C>T	NP_938052.1:p.Arg403Trp
XM_006720035.1:c.1297C>T	XP_006720098.1:p.Arg433Trp
XM_006720037.2:c.1207C>T	XP_006720100.1:p.Arg403Trp
XM_011536432.1:c.1375C>T	XP_011534734.1:p.Arg459Trp
XM_011536433.1:c.1375C>T	XP_011534735.1:p.Arg459Trp
XM_011536434.1:c.1285C>T	XP_011534736.1:p.Arg429Trp
XM_011536435.1:c.610C>T	XP_011534737.1:p.Arg204Trp
NM_001366535.1:c.1297C>T	NP_001353464.1:p.Arg433Trp
NM_001366536.1:c.1207C>T	NP_001353465.1:p.Arg403Trp
NR_159362.1:n.1414C>T
XM_011536433.2:c.1375C>T	XP_011534735.1:p.Arg459Trp
XM_011536434.2:c.1285C>T	XP_011534736.1:p.Arg429Trp
XM_024449477.1:c.610C>T	XP_024305245.1:p.Arg204Trp
NM_001366535.2:c.1297C>T	NP_001353464.1:p.Arg433Trp
NM_001366536.2:c.1207C>T	NP_001353465.1:p.Arg403Trp
NR_159362.2:n.1414C>T
NM_144596.4:c.1327C>T MANE Select	NP_653197.2:p.Arg443Trp