Canonical Allele Identifier: CA46619292
Gene: TTC7A HGNC NCBI

Linked Data

dbSNP Id: rs570945833
gnomAD v2: 2-47177428-C-A
gnomAD v3: 2-46950289-C-A
gnomAD v4: 2-46950289-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46950289C>A , CM000664.2:g.46950289C>A GRCh38
NC_000002.11:g.47177428C>A , CM000664.1:g.47177428C>A GRCh37
NC_000002.10:g.47030932C>A NCBI36
NG_034143.1:g.39161C>A
NG_034143.2:g.39161C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000698500.1:n.804-74C>A
ENST00000698501.1:n.506-74C>A
ENST00000698502.1:n.166-74C>A
ENST00000319190.11:c.185-74C>A MANE Select ENSP00000316699.5:n.185-74C>A
ENST00000319190.9:c.185-74C>A ENSP00000316699.5:n.185-74C>A
ENST00000394850.6:c.185-74C>A ENSP00000378320.2:n.185-74C>A
ENST00000409245.5:c.83-74C>A ENSP00000386307.1:n.83-74C>A
ENST00000441914.5:c.184-74C>A
ENST00000461601.5:n.452-74C>A
NM_001288951.1:c.185-74C>A NP_001275880.1:n.185-74C>A
NM_001288953.1:c.83-74C>A NP_001275882.1:n.83-74C>A
NM_001288955.1:c.-720-74C>A NP_001275884.1:n.-720-74C>A
NM_020458.3:c.185-74C>A NP_065191.2:n.185-74C>A
XM_011532999.1:c.185-74C>A XP_011531301.1:n.185-74C>A
XR_939696.1:n.490-74C>A
XM_005264439.4:c.-231-74C>A XP_005264496.1:n.-231-74C>A
XM_011532998.3:c.-296-74C>A XP_011531300.1:n.-296-74C>A
XM_011532999.2:c.185-74C>A XP_011531301.1:n.185-74C>A
XM_017004524.1:c.185-74C>A XP_016860013.1:n.185-74C>A
XM_017004525.1:c.17-74C>A XP_016860014.1:n.17-74C>A
XM_017004526.1:c.185-74C>A XP_016860015.1:n.185-74C>A
XM_017004529.1:c.185-74C>A XP_016860018.1:n.185-74C>A
XR_001738853.2:n.497-74C>A
XR_001738854.1:n.496-74C>A
NM_020458.4:c.185-74C>A MANE Select NP_065191.2:n.185-74C>A
NM_001288951.2:c.185-74C>A NP_001275880.1:n.185-74C>A
NM_001288953.2:c.83-74C>A NP_001275882.1:n.83-74C>A
NM_001288955.2:c.-720-74C>A NP_001275884.1:n.-720-74C>A