Canonical Allele Identifier: CA443962117

Gene: C7

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40934402C>G , CM000667.2:g.40934402C>G	GRCh38
NC_000005.9:g.40934504C>G , CM000667.1:g.40934504C>G	GRCh37
NC_000005.8:g.40970261C>G	NCBI36
NG_011692.1:g.29906C>G , LRG_30:g.29906C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489457.2:c.216C>G	ENSP00000512585.1:p.Ser72=
ENST00000696333.1:c.216C>G	ENSP00000512566.1:p.Ser72=
ENST00000696441.1:c.216C>G	ENSP00000512631.1:p.Ser72=
ENST00000706664.1:n.330C>G
ENST00000706666.1:n.292C>G
ENST00000706667.1:n.964C>G
ENST00000706668.1:n.944C>G
ENST00000313164.10:c.216C>G MANE Select	ENSP00000322061.9:p.Ser72=
ENST00000313164.9:c.216C>G	ENSP00000322061.9:p.Ser72=
ENST00000508185.5:n.80C>G
NM_000587.2:c.216C>G , LRG_30t1:c.216C>G	NP_000578.2:p.Ser72=
XM_011514122.1:c.216C>G	XP_011512424.1:p.Ser72=
NM_000587.3:c.216C>G	NP_000578.2:p.Ser72=
NM_000587.4:c.216C>G MANE Select	NP_000578.2:p.Ser72=