Canonical Allele Identifier: CA3249519

Gene: C7

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40931099A>G , CM000667.2:g.40931099A>G	GRCh38
NC_000005.9:g.40931201A>G , CM000667.1:g.40931201A>G	GRCh37
NC_000005.8:g.40966958A>G	NCBI36
NG_011692.1:g.26603A>G , LRG_30:g.26603A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000587.4:c.98A>G MANE Select	NP_000578.2:p.Tyr33Cys
ENST00000313164.10:c.98A>G MANE Select	ENSP00000322061.9:p.Tyr33Cys
NM_000587.2:c.98A>G , LRG_30t1:c.98A>G	NP_000578.2:p.Tyr33Cys
NM_000587.3:c.98A>G	NP_000578.2:p.Tyr33Cys
ENST00000313164.9:c.98A>G	ENSP00000322061.9:p.Tyr33Cys
ENST00000489457.2:c.98A>G	ENSP00000512585.1:p.Tyr33Cys
ENST00000696333.1:c.98A>G	ENSP00000512566.1:p.Tyr33Cys
ENST00000696334.1:n.211A>G
ENST00000696441.1:c.98A>G	ENSP00000512631.1:p.Tyr33Cys
ENST00000706664.1:n.212A>G
ENST00000706666.1:n.174A>G
ENST00000706667.1:n.846A>G
ENST00000706668.1:n.826A>G
XM_011514122.1:c.98A>G	XP_011512424.1:p.Tyr33Cys