Canonical Allele Identifier: CA1647007

Gene: TTC7A MCFD2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46917255C>G , CM000664.2:g.46917255C>G	GRCh38
NC_000002.11:g.47144394C>G , CM000664.1:g.47144394C>G	GRCh37
NC_000002.10:g.46997898C>G	NCBI36
NG_016428.2:g.29601G>C , LRG_566:g.29601G>C
NG_034143.1:g.6127C>G
NG_034143.2:g.6127C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001171508.2:c.-6-8078G>C , LRG_566t3:c.-6-8078G>C (MCFD2)	NP_001164979.1:n.-6-8078G>C
NM_001171511.2:c.93-9286G>C (MCFD2)	NP_001164982.1:n.93-9286G>C
NM_001171511.3:c.93-9286G>C (MCFD2)	NP_001164982.1:n.93-9286G>C
NM_001288953.1:c.60C>G (TTC7A)	NP_001275882.1:p.Leu20=
NM_001288953.2:c.60C>G (TTC7A)	NP_001275882.1:p.Leu20=
ENST00000409147.1:c.-7-9286G>C (MCFD2)	ENSP00000387082.1:n.-7-9286G>C
ENST00000409207.5:c.-6-8078G>C (MCFD2)	ENSP00000386386.1:n.-6-8078G>C
ENST00000409245.5:c.60C>G (TTC7A)	ENSP00000386307.1:p.Leu20=
ENST00000444761.6:c.93-9286G>C (MCFD2)	ENSP00000394647.2:n.93-9286G>C
ENST00000470873.1:n.203-11661G>C (MCFD2)
ENST00000479225.1:n.144-8078G>C (MCFD2)
ENST00000487121.1:n.157-8078G>C (MCFD2)
ENST00000698499.1:n.781C>G (TTC7A)
ENST00000698500.1:n.781C>G (TTC7A)
ENST00000698501.1:n.483C>G (TTC7A)
ENST00000698502.1:n.165+678C>G (TTC7A)
XM_005264439.4:c.-232+678C>G (TTC7A)	XP_005264496.1:n.-232+678C>G
XM_011532998.3:c.-297+678C>G (TTC7A)	XP_011531300.1:n.-297+678C>G