Canonical Allele Identifier: CA199689

Gene: TTC7A

Linked Data

• ClinVar Variation Id: 190395
• ClinVar RCV Id: RCV000170533 ; RCV003226234
• dbSNP Id: rs147914967
• ExAC: 2:47177528 G / A
• gnomAD v2: 2-47177528-G-A
• gnomAD v3: 2-46950389-G-A
• gnomAD v4: 2-46950389-G-A
• COSMIC: COSM3799037
• MyVariant Identifiers: chr2:g.47177528G>A (hg19) ; chr2:g.46950389G>A (hg38)
• PubMed: PMID:24417819 ; PMID:25174867

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46950389G>A , CM000664.2:g.46950389G>A	GRCh38
NC_000002.11:g.47177528G>A , CM000664.1:g.47177528G>A	GRCh37
NC_000002.10:g.47031032G>A	NCBI36
NG_034143.1:g.39261G>A
NG_034143.2:g.39261G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.830G>A
ENST00000698501.1:n.532G>A
ENST00000698502.1:n.192G>A
ENST00000319190.11:c.211G>A MANE Select	ENSP00000316699.5:p.Glu71Lys
ENST00000319190.9:c.211G>A	ENSP00000316699.5:p.Glu71Lys
ENST00000394850.6:c.211G>A	ENSP00000378320.2:p.Glu71Lys
ENST00000409245.5:c.109G>A	ENSP00000386307.1:p.Glu37Lys
ENST00000441914.5:c.210G>A
ENST00000461601.5:n.478G>A
NM_001288951.1:c.211G>A	NP_001275880.1:p.Glu71Lys
NM_001288953.1:c.109G>A	NP_001275882.1:p.Glu37Lys
NM_001288955.1:c.-694G>A	NP_001275884.1:n.-694G>A
NM_020458.3:c.211G>A	NP_065191.2:p.Glu71Lys
XM_011532999.1:c.211G>A	XP_011531301.1:p.Glu71Lys
XR_939696.1:n.516G>A
XM_005264439.4:c.-205G>A	XP_005264496.1:n.-205G>A
XM_011532998.3:c.-270G>A	XP_011531300.1:n.-270G>A
XM_011532999.2:c.211G>A	XP_011531301.1:p.Glu71Lys
XM_017004524.1:c.211G>A	XP_016860013.1:p.Glu71Lys
XM_017004525.1:c.43G>A	XP_016860014.1:p.Glu15Lys
XM_017004526.1:c.211G>A	XP_016860015.1:p.Glu71Lys
XM_017004529.1:c.211G>A	XP_016860018.1:p.Glu71Lys
XR_001738853.2:n.523G>A
XR_001738854.1:n.522G>A
NM_020458.4:c.211G>A MANE Select	NP_065191.2:p.Glu71Lys
NM_001288951.2:c.211G>A	NP_001275880.1:p.Glu71Lys
NM_001288953.2:c.109G>A	NP_001275882.1:p.Glu37Lys
NM_001288955.2:c.-694G>A	NP_001275884.1:n.-694G>A