Canonical Allele Identifier: CA2658921487

Gene: TTC7A

Linked Data

• gnomAD v4: 2-46950303-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46950303C>A , CM000664.2:g.46950303C>A	GRCh38
NC_000002.11:g.47177442C>A , CM000664.1:g.47177442C>A	GRCh37
NC_000002.10:g.47030946C>A	NCBI36
NG_034143.1:g.39175C>A
NG_034143.2:g.39175C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698500.1:n.804-60C>A
ENST00000698501.1:n.506-60C>A
ENST00000698502.1:n.166-60C>A
ENST00000319190.11:c.185-60C>A MANE Select	ENSP00000316699.5:n.185-60C>A
ENST00000319190.9:c.185-60C>A	ENSP00000316699.5:n.185-60C>A
ENST00000394850.6:c.185-60C>A	ENSP00000378320.2:n.185-60C>A
ENST00000409245.5:c.83-60C>A	ENSP00000386307.1:n.83-60C>A
ENST00000441914.5:c.184-60C>A
ENST00000461601.5:n.452-60C>A
NM_001288951.1:c.185-60C>A	NP_001275880.1:n.185-60C>A
NM_001288953.1:c.83-60C>A	NP_001275882.1:n.83-60C>A
NM_001288955.1:c.-720-60C>A	NP_001275884.1:n.-720-60C>A
NM_020458.3:c.185-60C>A	NP_065191.2:n.185-60C>A
XM_011532999.1:c.185-60C>A	XP_011531301.1:n.185-60C>A
XR_939696.1:n.490-60C>A
XM_005264439.4:c.-231-60C>A	XP_005264496.1:n.-231-60C>A
XM_011532998.3:c.-296-60C>A	XP_011531300.1:n.-296-60C>A
XM_011532999.2:c.185-60C>A	XP_011531301.1:n.185-60C>A
XM_017004524.1:c.185-60C>A	XP_016860013.1:n.185-60C>A
XM_017004525.1:c.17-60C>A	XP_016860014.1:n.17-60C>A
XM_017004526.1:c.185-60C>A	XP_016860015.1:n.185-60C>A
XM_017004529.1:c.185-60C>A	XP_016860018.1:n.185-60C>A
XR_001738853.2:n.497-60C>A
XR_001738854.1:n.496-60C>A
NM_020458.4:c.185-60C>A MANE Select	NP_065191.2:n.185-60C>A
NM_001288951.2:c.185-60C>A	NP_001275880.1:n.185-60C>A
NM_001288953.2:c.83-60C>A	NP_001275882.1:n.83-60C>A
NM_001288955.2:c.-720-60C>A	NP_001275884.1:n.-720-60C>A