Canonical Allele Identifier: CA346717461

Gene: TTC7A STPG4

Linked Data

• dbSNP Id: rs1684974889
• MyVariant Identifiers: chr2:g.47300867C>G (hg19) ; chr2:g.47073728C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073728C>G , CM000664.2:g.47073728C>G	GRCh38
NC_000002.11:g.47300867C>G , CM000664.1:g.47300867C>G	GRCh37
NC_000002.10:g.47154371C>G	NCBI36
NG_034143.1:g.162600C>G
NG_034143.2:g.162600C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4215C>G (TTC7A)
ENST00000698503.1:n.2388C>G (TTC7A)
ENST00000698504.1:n.463C>G (TTC7A)
ENST00000319190.11:c.2382C>G (TTC7A) MANE Select	ENSP00000316699.5:p.His794Gln
ENST00000651101.1:n.980C>G (TTC7A)
ENST00000651415.1:n.1173C>G (TTC7A)
ENST00000652236.1:n.1083C>G (TTC7A)
ENST00000652568.1:n.1055C>G (TTC7A)
ENST00000319190.9:c.2382C>G (TTC7A)	ENSP00000316699.5:p.His794Gln
ENST00000394850.6:c.2454C>G (TTC7A)	ENSP00000378320.2:p.His818Gln
ENST00000409245.5:c.2280C>G (TTC7A)	ENSP00000386307.1:p.His760Gln
ENST00000409825.5:c.2330C>G (TTC7A)
ENST00000422269.1:c.787-7591G>C
ENST00000441914.5:c.2223C>G (TTC7A)
ENST00000464527.2:n.399-7591G>C (STPG4)
ENST00000482548.1:n.402-5172G>C (STPG4)
ENST00000484061.5:n.1489C>G (TTC7A)
ENST00000491786.5:n.1786C>G (TTC7A)
ENST00000496939.1:n.416-26809G>C (STPG4)
NM_001288951.1:c.2454C>G (TTC7A)	NP_001275880.1:p.His818Gln
NM_001288953.1:c.2280C>G (TTC7A)	NP_001275882.1:p.His760Gln
NM_001288955.1:c.1320C>G (TTC7A)	NP_001275884.1:p.His440Gln
NM_020458.3:c.2382C>G (TTC7A)	NP_065191.2:p.His794Gln
XM_005264439.2:c.2025C>G (TTC7A)	XP_005264496.1:p.His675Gln
XM_011532998.1:c.2025C>G (TTC7A)	XP_011531300.1:p.His675Gln
XM_011533000.1:c.1602C>G (TTC7A)	XP_011531302.1:p.His534Gln
XM_011533001.1:c.1335C>G (TTC7A)	XP_011531303.1:p.His445Gln
XM_005264439.4:c.2025C>G (TTC7A)	XP_005264496.1:p.His675Gln
XM_011532998.3:c.2025C>G (TTC7A)	XP_011531300.1:p.His675Gln
XM_011533000.3:c.1602C>G (TTC7A)	XP_011531302.1:p.His534Gln
XM_011533001.3:c.1335C>G (TTC7A)	XP_011531303.1:p.His445Gln
XM_017004524.1:c.2265C>G (TTC7A)	XP_016860013.1:p.His755Gln
XM_017004525.1:c.2214C>G (TTC7A)	XP_016860014.1:p.His738Gln
XM_017004526.1:c.2133C>G (TTC7A)	XP_016860015.1:p.His711Gln
XM_024453013.1:c.1347C>G (TTC7A)	XP_024308781.1:p.His449Gln
NM_020458.4:c.2382C>G (TTC7A) MANE Select	NP_065191.2:p.His794Gln
NM_001288951.2:c.2454C>G (TTC7A)	NP_001275880.1:p.His818Gln
NM_001288953.2:c.2280C>G (TTC7A)	NP_001275882.1:p.His760Gln
NM_001288955.2:c.1320C>G (TTC7A)	NP_001275884.1:p.His440Gln