Canonical Allele Identifier: CA3249564

Gene: C7

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40934411T>G , CM000667.2:g.40934411T>G	GRCh38
NC_000005.9:g.40934513T>G , CM000667.1:g.40934513T>G	GRCh37
NC_000005.8:g.40970270T>G	NCBI36
NG_011692.1:g.29915T>G , LRG_30:g.29915T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489457.2:c.225T>G	ENSP00000512585.1:p.Pro75=
ENST00000696333.1:c.225T>G	ENSP00000512566.1:p.Pro75=
ENST00000696441.1:c.225T>G	ENSP00000512631.1:p.Pro75=
ENST00000706664.1:n.339T>G
ENST00000706666.1:n.301T>G
ENST00000706667.1:n.973T>G
ENST00000706668.1:n.953T>G
ENST00000313164.10:c.225T>G MANE Select	ENSP00000322061.9:p.Pro75=
ENST00000313164.9:c.225T>G	ENSP00000322061.9:p.Pro75=
ENST00000508185.5:n.89T>G
NM_000587.2:c.225T>G , LRG_30t1:c.225T>G	NP_000578.2:p.Pro75=
XM_011514122.1:c.225T>G	XP_011512424.1:p.Pro75=
NM_000587.3:c.225T>G	NP_000578.2:p.Pro75=
NM_000587.4:c.225T>G MANE Select	NP_000578.2:p.Pro75=