Canonical Allele Identifier: CA1647036

Gene: TTC7A MCFD2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46941683A>G , CM000664.2:g.46941683A>G	GRCh38
NC_000002.11:g.47168822A>G , CM000664.1:g.47168822A>G	GRCh37
NC_000002.10:g.47022326A>G	NCBI36
NG_016428.2:g.5173T>C , LRG_566:g.5173T>C
NG_034143.1:g.30555A>G
NG_034143.2:g.30555A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.142A>G (TTC7A) MANE Select	NP_065191.2:p.Arg48Gly
ENST00000319190.11:c.142A>G (TTC7A) MANE Select	ENSP00000316699.5:p.Arg48Gly
NM_001171508.2:c.-118T>C , LRG_566t3:c.-118T>C (MCFD2)	NP_001164979.1:n.-118T>C
NM_001171511.2:c.-20T>C (MCFD2)	NP_001164982.1:n.-20T>C
NM_001171511.3:c.-20T>C (MCFD2)	NP_001164982.1:n.-20T>C
NM_001288951.1:c.142A>G (TTC7A)	NP_001275880.1:p.Arg48Gly
NM_001288951.2:c.142A>G (TTC7A)	NP_001275880.1:p.Arg48Gly
NM_001288953.1:c.83-8680A>G (TTC7A)	NP_001275882.1:n.83-8680A>G
NM_001288953.2:c.83-8680A>G (TTC7A)	NP_001275882.1:n.83-8680A>G
NM_001288955.1:c.-763A>G (TTC7A)	NP_001275884.1:n.-763A>G
NM_001288955.2:c.-763A>G (TTC7A)	NP_001275884.1:n.-763A>G
NM_020458.3:c.142A>G (TTC7A)	NP_065191.2:p.Arg48Gly
ENST00000319190.9:c.142A>G (TTC7A)	ENSP00000316699.5:p.Arg48Gly
ENST00000394850.6:c.142A>G (TTC7A)	ENSP00000378320.2:p.Arg48Gly
ENST00000409147.1:c.-119T>C (MCFD2)	ENSP00000387082.1:n.-119T>C
ENST00000409207.5:c.-118T>C (MCFD2)	ENSP00000386386.1:n.-118T>C
ENST00000409245.5:c.83-8680A>G (TTC7A)	ENSP00000386307.1:n.83-8680A>G
ENST00000441914.5:c.141A>G (TTC7A)
ENST00000444761.6:c.-20T>C (MCFD2)	ENSP00000394647.2:n.-20T>C
ENST00000461601.5:n.409A>G (TTC7A)
ENST00000470873.1:n.91T>C (MCFD2)
ENST00000479225.1:n.32T>C (MCFD2)
ENST00000487121.1:n.45T>C (MCFD2)
ENST00000698500.1:n.804-8680A>G (TTC7A)
ENST00000698501.1:n.506-8680A>G (TTC7A)
ENST00000698502.1:n.166-8680A>G (TTC7A)
XM_005264439.4:c.-231-8680A>G (TTC7A)	XP_005264496.1:n.-231-8680A>G
XM_011532998.3:c.-296-8680A>G (TTC7A)	XP_011531300.1:n.-296-8680A>G
XM_011532999.1:c.142A>G (TTC7A)	XP_011531301.1:p.Arg48Gly
XM_011532999.2:c.142A>G (TTC7A)	XP_011531301.1:p.Arg48Gly
XM_017004524.1:c.142A>G (TTC7A)	XP_016860013.1:p.Arg48Gly
XM_017004526.1:c.142A>G (TTC7A)	XP_016860015.1:p.Arg48Gly
XM_017004529.1:c.142A>G (TTC7A)	XP_016860018.1:p.Arg48Gly
XR_001738853.2:n.454A>G (TTC7A)
XR_001738854.1:n.453A>G (TTC7A)
XR_939696.1:n.447A>G (TTC7A)