Canonical Allele Identifier: CA1647534
Community Standard Title: NM_020458.4(TTC7A):c.1203+4C>T
Gene: TTC7A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47006063C>T , CM000664.2:g.47006063C>T GRCh38
NC_000002.11:g.47233202C>T , CM000664.1:g.47233202C>T GRCh37
NC_000002.10:g.47086706C>T NCBI36
NG_034143.1:g.94935C>T
NG_034143.2:g.94935C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020458.4:c.1203+4C>T MANE Select NP_065191.2:n.1203+4C>T
ENST00000319190.11:c.1203+4C>T MANE Select ENSP00000316699.5:n.1203+4C>T
NM_001288951.1:c.1203+4C>T NP_001275880.1:n.1203+4C>T
NM_001288951.2:c.1203+4C>T NP_001275880.1:n.1203+4C>T
NM_001288953.1:c.1101+4C>T NP_001275882.1:n.1101+4C>T
NM_001288953.2:c.1101+4C>T NP_001275882.1:n.1101+4C>T
NM_001288955.1:c.141+4C>T NP_001275884.1:n.141+4C>T
NM_001288955.2:c.141+4C>T NP_001275884.1:n.141+4C>T
NM_020458.3:c.1203+4C>T NP_065191.2:n.1203+4C>T
ENST00000319190.9:c.1203+4C>T ENSP00000316699.5:n.1203+4C>T
ENST00000394850.6:c.1203+4C>T ENSP00000378320.2:n.1203+4C>T
ENST00000409245.5:c.1101+4C>T ENSP00000386307.1:n.1101+4C>T
ENST00000409825.5:c.1151+4C>T
ENST00000440051.1:c.128+4C>T
ENST00000441914.5:c.1044+4C>T
ENST00000461601.5:n.1528+4C>T
ENST00000484061.5:n.486+4C>T
ENST00000491786.5:n.607+4C>T
ENST00000698500.1:n.3036+4C>T
XM_005264439.2:c.846+4C>T XP_005264496.1:n.846+4C>T
XM_005264439.4:c.846+4C>T XP_005264496.1:n.846+4C>T
XM_011532998.1:c.846+4C>T XP_011531300.1:n.846+4C>T
XM_011532998.3:c.846+4C>T XP_011531300.1:n.846+4C>T
XM_011532999.1:c.1203+4C>T XP_011531301.1:n.1203+4C>T
XM_011532999.2:c.1203+4C>T XP_011531301.1:n.1203+4C>T
XM_011533000.1:c.423+4C>T XP_011531302.1:n.423+4C>T
XM_011533000.3:c.423+4C>T XP_011531302.1:n.423+4C>T
XM_011533001.1:c.156+4C>T XP_011531303.1:n.156+4C>T
XM_011533001.3:c.156+4C>T XP_011531303.1:n.156+4C>T
XM_017004524.1:c.1203+4C>T XP_016860013.1:n.1203+4C>T
XM_017004525.1:c.1035+4C>T XP_016860014.1:n.1035+4C>T
XM_017004526.1:c.1203+4C>T XP_016860015.1:n.1203+4C>T
XM_017004529.1:c.1203+4C>T XP_016860018.1:n.1203+4C>T
XM_024453013.1:c.168+4C>T XP_024308781.1:n.168+4C>T
XR_001738853.2:n.1515+4C>T
XR_001738854.1:n.1514+4C>T
XR_939696.1:n.1508+4C>T