Canonical Allele Identifier: CA46629944

Gene: TTC7A MCFD2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46916850G>A , CM000664.2:g.46916850G>A	GRCh38
NC_000002.11:g.47143989G>A , CM000664.1:g.47143989G>A	GRCh37
NC_000002.10:g.46997493G>A	NCBI36
NG_016428.2:g.30006C>T , LRG_566:g.30006C>T
NG_034143.1:g.5722G>A
NG_034143.2:g.5722G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001171508.2:c.-6-7673C>T , LRG_566t3:c.-6-7673C>T (MCFD2)	NP_001164979.1:n.-6-7673C>T
NM_001171511.2:c.93-8881C>T (MCFD2)	NP_001164982.1:n.93-8881C>T
NM_001171511.3:c.93-8881C>T (MCFD2)	NP_001164982.1:n.93-8881C>T
NM_001288953.1:c.-13+273G>A (TTC7A)	NP_001275882.1:n.-13+273G>A
NM_001288953.2:c.-13+273G>A (TTC7A)	NP_001275882.1:n.-13+273G>A
ENST00000409147.1:c.-7-8881C>T (MCFD2)	ENSP00000387082.1:n.-7-8881C>T
ENST00000409207.5:c.-6-7673C>T (MCFD2)	ENSP00000386386.1:n.-6-7673C>T
ENST00000409245.5:c.-13+273G>A (TTC7A)	ENSP00000386307.1:n.-13+273G>A
ENST00000444761.6:c.93-8881C>T (MCFD2)	ENSP00000394647.2:n.93-8881C>T
ENST00000470873.1:n.203-11256C>T (MCFD2)
ENST00000479225.1:n.144-7673C>T (MCFD2)
ENST00000487121.1:n.157-7673C>T (MCFD2)
ENST00000698499.1:n.709+273G>A (TTC7A)
ENST00000698500.1:n.709+273G>A (TTC7A)
ENST00000698501.1:n.411+273G>A (TTC7A)
ENST00000698502.1:n.165+273G>A (TTC7A)
XM_005264439.4:c.-232+273G>A (TTC7A)	XP_005264496.1:n.-232+273G>A
XM_011532998.3:c.-297+273G>A (TTC7A)	XP_011531300.1:n.-297+273G>A