Canonical Allele Identifier: CA2658921493

Gene: TTC7A

Linked Data

• gnomAD v4: 2-46950305-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46950305C>T , CM000664.2:g.46950305C>T	GRCh38
NC_000002.11:g.47177444C>T , CM000664.1:g.47177444C>T	GRCh37
NC_000002.10:g.47030948C>T	NCBI36
NG_034143.1:g.39177C>T
NG_034143.2:g.39177C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698500.1:n.804-58C>T
ENST00000698501.1:n.506-58C>T
ENST00000698502.1:n.166-58C>T
ENST00000319190.11:c.185-58C>T MANE Select	ENSP00000316699.5:n.185-58C>T
ENST00000319190.9:c.185-58C>T	ENSP00000316699.5:n.185-58C>T
ENST00000394850.6:c.185-58C>T	ENSP00000378320.2:n.185-58C>T
ENST00000409245.5:c.83-58C>T	ENSP00000386307.1:n.83-58C>T
ENST00000441914.5:c.184-58C>T
ENST00000461601.5:n.452-58C>T
NM_001288951.1:c.185-58C>T	NP_001275880.1:n.185-58C>T
NM_001288953.1:c.83-58C>T	NP_001275882.1:n.83-58C>T
NM_001288955.1:c.-720-58C>T	NP_001275884.1:n.-720-58C>T
NM_020458.3:c.185-58C>T	NP_065191.2:n.185-58C>T
XM_011532999.1:c.185-58C>T	XP_011531301.1:n.185-58C>T
XR_939696.1:n.490-58C>T
XM_005264439.4:c.-231-58C>T	XP_005264496.1:n.-231-58C>T
XM_011532998.3:c.-296-58C>T	XP_011531300.1:n.-296-58C>T
XM_011532999.2:c.185-58C>T	XP_011531301.1:n.185-58C>T
XM_017004524.1:c.185-58C>T	XP_016860013.1:n.185-58C>T
XM_017004525.1:c.17-58C>T	XP_016860014.1:n.17-58C>T
XM_017004526.1:c.185-58C>T	XP_016860015.1:n.185-58C>T
XM_017004529.1:c.185-58C>T	XP_016860018.1:n.185-58C>T
XR_001738853.2:n.497-58C>T
XR_001738854.1:n.496-58C>T
NM_020458.4:c.185-58C>T MANE Select	NP_065191.2:n.185-58C>T
NM_001288951.2:c.185-58C>T	NP_001275880.1:n.185-58C>T
NM_001288953.2:c.83-58C>T	NP_001275882.1:n.83-58C>T
NM_001288955.2:c.-720-58C>T	NP_001275884.1:n.-720-58C>T