Canonical Allele Identifier: CA2658930841

Linked Data

gnomAD v4: 2-47074028-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47074028A>G , CM000664.2:g.47074028A>G GRCh38
NC_000002.11:g.47301167A>G , CM000664.1:g.47301167A>G GRCh37
NC_000002.10:g.47154671A>G NCBI36
NG_034143.1:g.162900A>G
NG_034143.2:g.162900A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698500.1:n.4515A>G (TTC7A)
ENST00000698503.1:n.2688A>G (TTC7A)
ENST00000319190.11:c.*105A>G (TTC7A) MANE Select ENSP00000316699.5:n.*105A>G
ENST00000651101.1:n.1280A>G (TTC7A)
ENST00000651415.1:n.1473A>G (TTC7A)
ENST00000652236.1:n.1383A>G (TTC7A)
ENST00000652568.1:n.1355A>G (TTC7A)
ENST00000319190.9:c.*105A>G (TTC7A) ENSP00000316699.5:n.*105A>G
ENST00000394850.6:c.*105A>G (TTC7A) ENSP00000378320.2:n.*105A>G
ENST00000409245.5:c.*105A>G (TTC7A) ENSP00000386307.1:n.*105A>G
ENST00000409825.5:c.2630A>G (TTC7A)
ENST00000422269.1:c.787-7891T>C
ENST00000464527.2:n.399-7891T>C (STPG4)
ENST00000482548.1:n.402-5472T>C (STPG4)
ENST00000484061.5:n.1789A>G (TTC7A)
ENST00000491786.5:n.2086A>G (TTC7A)
ENST00000496939.1:n.416-27109T>C (STPG4)
NM_001288951.1:c.*105A>G (TTC7A) NP_001275880.1:n.*105A>G
NM_001288953.1:c.*105A>G (TTC7A) NP_001275882.1:n.*105A>G
NM_001288955.1:c.*105A>G (TTC7A) NP_001275884.1:n.*105A>G
NM_020458.3:c.*105A>G (TTC7A) NP_065191.2:n.*105A>G
XM_005264439.2:c.*105A>G (TTC7A) XP_005264496.1:n.*105A>G
XM_011532998.1:c.*105A>G (TTC7A) XP_011531300.1:n.*105A>G
XM_011533000.1:c.*105A>G (TTC7A) XP_011531302.1:n.*105A>G
XM_011533001.1:c.*105A>G (TTC7A) XP_011531303.1:n.*105A>G
XM_005264439.4:c.*105A>G (TTC7A) XP_005264496.1:n.*105A>G
XM_011532998.3:c.*105A>G (TTC7A) XP_011531300.1:n.*105A>G
XM_011533000.3:c.*105A>G (TTC7A) XP_011531302.1:n.*105A>G
XM_011533001.3:c.*105A>G (TTC7A) XP_011531303.1:n.*105A>G
XM_017004524.1:c.*105A>G (TTC7A) XP_016860013.1:n.*105A>G
XM_017004525.1:c.*105A>G (TTC7A) XP_016860014.1:n.*105A>G
XM_017004526.1:c.*105A>G (TTC7A) XP_016860015.1:n.*105A>G
XM_024453013.1:c.*105A>G (TTC7A) XP_024308781.1:n.*105A>G
NM_020458.4:c.*105A>G (TTC7A) MANE Select NP_065191.2:n.*105A>G
NM_001288951.2:c.*105A>G (TTC7A) NP_001275880.1:n.*105A>G
NM_001288953.2:c.*105A>G (TTC7A) NP_001275882.1:n.*105A>G
NM_001288955.2:c.*105A>G (TTC7A) NP_001275884.1:n.*105A>G