Canonical Allele Identifier: CA1030237135

Gene: TTC7A

Linked Data

• dbSNP Id: rs982713620
• gnomAD v3: 2-47002557-G-T
• gnomAD v4: 2-47002557-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47002557G>T , CM000664.2:g.47002557G>T	GRCh38
NC_000002.11:g.47229696G>T , CM000664.1:g.47229696G>T	GRCh37
NC_000002.10:g.47083200G>T	NCBI36
NG_034143.1:g.91429G>T
NG_034143.2:g.91429G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.2899-3365G>T
ENST00000319190.11:c.1066-3365G>T MANE Select	ENSP00000316699.5:n.1066-3365G>T
ENST00000319190.9:c.1066-3365G>T	ENSP00000316699.5:n.1066-3365G>T
ENST00000394850.6:c.1066-3365G>T	ENSP00000378320.2:n.1066-3365G>T
ENST00000409245.5:c.964-3365G>T	ENSP00000386307.1:n.964-3365G>T
ENST00000409825.5:c.1014-3365G>T
ENST00000441914.5:c.907-3365G>T
ENST00000461601.5:n.1391-3365G>T
ENST00000474321.6:n.550-3365G>T
ENST00000484061.5:n.349-3365G>T
ENST00000491786.5:n.470-3365G>T
NM_001288951.1:c.1066-3365G>T	NP_001275880.1:n.1066-3365G>T
NM_001288953.1:c.964-3365G>T	NP_001275882.1:n.964-3365G>T
NM_001288955.1:c.4-3365G>T	NP_001275884.1:n.4-3365G>T
NM_020458.3:c.1066-3365G>T	NP_065191.2:n.1066-3365G>T
XM_005264439.2:c.709-3365G>T	XP_005264496.1:n.709-3365G>T
XM_011532998.1:c.709-3365G>T	XP_011531300.1:n.709-3365G>T
XM_011532999.1:c.1066-3365G>T	XP_011531301.1:n.1066-3365G>T
XM_011533000.1:c.286-3365G>T	XP_011531302.1:n.286-3365G>T
XR_939696.1:n.1371-3365G>T
XM_005264439.4:c.709-3365G>T	XP_005264496.1:n.709-3365G>T
XM_011532998.3:c.709-3365G>T	XP_011531300.1:n.709-3365G>T
XM_011532999.2:c.1066-3365G>T	XP_011531301.1:n.1066-3365G>T
XM_011533000.3:c.286-3365G>T	XP_011531302.1:n.286-3365G>T
XM_017004524.1:c.1066-3365G>T	XP_016860013.1:n.1066-3365G>T
XM_017004525.1:c.898-3365G>T	XP_016860014.1:n.898-3365G>T
XM_017004526.1:c.1066-3365G>T	XP_016860015.1:n.1066-3365G>T
XM_017004529.1:c.1066-3365G>T	XP_016860018.1:n.1066-3365G>T
XM_024453013.1:c.31-3365G>T	XP_024308781.1:n.31-3365G>T
XR_001738853.2:n.1378-3365G>T
XR_001738854.1:n.1377-3365G>T
NM_020458.4:c.1066-3365G>T MANE Select	NP_065191.2:n.1066-3365G>T
NM_001288951.2:c.1066-3365G>T	NP_001275880.1:n.1066-3365G>T
NM_001288953.2:c.964-3365G>T	NP_001275882.1:n.964-3365G>T
NM_001288955.2:c.4-3365G>T	NP_001275884.1:n.4-3365G>T