Canonical Allele Identifier: CA46619351

Gene: TTC7A

Linked Data

• ClinVar Variation Id: 740986
• ClinVar RCV Id: RCV000917105
• dbSNP Id: rs587777548
• gnomAD v2: 2-47222281-C-T
• gnomAD v3: 2-46995142-C-T
• gnomAD v4: 2-46995142-C-T
• MyVariant Identifiers: chr2:g.47222281C>T (hg19) ; chr2:g.46995142C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46995142C>T , CM000664.2:g.46995142C>T	GRCh38
NC_000002.11:g.47222281C>T , CM000664.1:g.47222281C>T	GRCh37
NC_000002.10:g.47075785C>T	NCBI36
NG_034143.1:g.84014C>T
NG_034143.2:g.84014C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698500.1:n.2841C>T
ENST00000319190.11:c.1008C>T MANE Select	ENSP00000316699.5:p.Tyr336=
ENST00000319190.9:c.1008C>T	ENSP00000316699.5:p.Tyr336=
ENST00000394850.6:c.1008C>T	ENSP00000378320.2:p.Tyr336=
ENST00000409245.5:c.906C>T	ENSP00000386307.1:p.Tyr302=
ENST00000409825.5:c.956C>T
ENST00000441914.5:c.849C>T
ENST00000461601.5:n.1333C>T
ENST00000474321.6:n.492C>T
ENST00000484061.5:n.291C>T
ENST00000491786.5:n.412C>T
NM_001288951.1:c.1008C>T	NP_001275880.1:p.Tyr336=
NM_001288953.1:c.906C>T	NP_001275882.1:p.Tyr302=
NM_001288955.1:c.-55C>T	NP_001275884.1:n.-55C>T
NM_020458.3:c.1008C>T	NP_065191.2:p.Tyr336=
XM_005264439.2:c.651C>T	XP_005264496.1:p.Tyr217=
XM_011532998.1:c.651C>T	XP_011531300.1:p.Tyr217=
XM_011532999.1:c.1008C>T	XP_011531301.1:p.Tyr336=
XM_011533000.1:c.228C>T	XP_011531302.1:p.Tyr76=
XR_939696.1:n.1313C>T
XM_005264439.4:c.651C>T	XP_005264496.1:p.Tyr217=
XM_011532998.3:c.651C>T	XP_011531300.1:p.Tyr217=
XM_011532999.2:c.1008C>T	XP_011531301.1:p.Tyr336=
XM_011533000.3:c.228C>T	XP_011531302.1:p.Tyr76=
XM_017004524.1:c.1008C>T	XP_016860013.1:p.Tyr336=
XM_017004525.1:c.840C>T	XP_016860014.1:p.Tyr280=
XM_017004526.1:c.1008C>T	XP_016860015.1:p.Tyr336=
XM_017004529.1:c.1008C>T	XP_016860018.1:p.Tyr336=
XR_001738853.2:n.1320C>T
XR_001738854.1:n.1319C>T
NM_020458.4:c.1008C>T MANE Select	NP_065191.2:p.Tyr336=
NM_001288951.2:c.1008C>T	NP_001275880.1:p.Tyr336=
NM_001288953.2:c.906C>T	NP_001275882.1:p.Tyr302=
NM_001288955.2:c.-55C>T	NP_001275884.1:n.-55C>T