Canonical Allele Identifier: CA1647455

Gene: TTC7A

Linked Data

• ClinVar Variation Id: 458792
• ClinVar RCV Id: RCV000560863 ; RCV001703190
• dbSNP Id: rs151317740
• ExAC: 2:47222299 C / T
• gnomAD v2: 2-47222299-C-T
• gnomAD v3: 2-46995160-C-T
• gnomAD v4: 2-46995160-C-T
• COSMIC: COSM3910370
• MyVariant Identifiers: chr2:g.47222299C>T (hg19) ; chr2:g.46995160C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46995160C>T , CM000664.2:g.46995160C>T	GRCh38
NC_000002.11:g.47222299C>T , CM000664.1:g.47222299C>T	GRCh37
NC_000002.10:g.47075803C>T	NCBI36
NG_034143.1:g.84032C>T
NG_034143.2:g.84032C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.2859C>T
ENST00000319190.11:c.1026C>T MANE Select	ENSP00000316699.5:p.Ile342=
ENST00000319190.9:c.1026C>T	ENSP00000316699.5:p.Ile342=
ENST00000394850.6:c.1026C>T	ENSP00000378320.2:p.Ile342=
ENST00000409245.5:c.924C>T	ENSP00000386307.1:p.Ile308=
ENST00000409825.5:c.974C>T
ENST00000441914.5:c.867C>T
ENST00000461601.5:n.1351C>T
ENST00000474321.6:n.510C>T
ENST00000484061.5:n.309C>T
ENST00000491786.5:n.430C>T
NM_001288951.1:c.1026C>T	NP_001275880.1:p.Ile342=
NM_001288953.1:c.924C>T	NP_001275882.1:p.Ile308=
NM_001288955.1:c.-37C>T	NP_001275884.1:n.-37C>T
NM_020458.3:c.1026C>T	NP_065191.2:p.Ile342=
XM_005264439.2:c.669C>T	XP_005264496.1:p.Ile223=
XM_011532998.1:c.669C>T	XP_011531300.1:p.Ile223=
XM_011532999.1:c.1026C>T	XP_011531301.1:p.Ile342=
XM_011533000.1:c.246C>T	XP_011531302.1:p.Ile82=
XR_939696.1:n.1331C>T
XM_005264439.4:c.669C>T	XP_005264496.1:p.Ile223=
XM_011532998.3:c.669C>T	XP_011531300.1:p.Ile223=
XM_011532999.2:c.1026C>T	XP_011531301.1:p.Ile342=
XM_011533000.3:c.246C>T	XP_011531302.1:p.Ile82=
XM_017004524.1:c.1026C>T	XP_016860013.1:p.Ile342=
XM_017004525.1:c.858C>T	XP_016860014.1:p.Ile286=
XM_017004526.1:c.1026C>T	XP_016860015.1:p.Ile342=
XM_017004529.1:c.1026C>T	XP_016860018.1:p.Ile342=
XR_001738853.2:n.1338C>T
XR_001738854.1:n.1337C>T
NM_020458.4:c.1026C>T MANE Select	NP_065191.2:p.Ile342=
NM_001288951.2:c.1026C>T	NP_001275880.1:p.Ile342=
NM_001288953.2:c.924C>T	NP_001275882.1:p.Ile308=
NM_001288955.2:c.-37C>T	NP_001275884.1:n.-37C>T