Canonical Allele Identifier: CA3249694

Gene: C7

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40945220A>G , CM000667.2:g.40945220A>G	GRCh38
NC_000005.9:g.40945322A>G , CM000667.1:g.40945322A>G	GRCh37
NC_000005.8:g.40981079A>G	NCBI36
NG_011692.1:g.40724A>G , LRG_30:g.40724A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696333.1:c.590A>G	ENSP00000512566.1:p.Asn197Ser
ENST00000696441.1:c.590A>G	ENSP00000512631.1:p.Asn197Ser
ENST00000706664.1:n.704A>G
ENST00000706666.1:n.666A>G
ENST00000706667.1:n.1480A>G
ENST00000706668.1:n.1318A>G
ENST00000313164.10:c.590A>G MANE Select	ENSP00000322061.9:p.Asn197Ser
ENST00000313164.9:c.590A>G	ENSP00000322061.9:p.Asn197Ser
ENST00000508185.5:n.454A>G
NM_000587.2:c.590A>G , LRG_30t1:c.590A>G	NP_000578.2:p.Asn197Ser
XM_011514122.1:c.590A>G	XP_011512424.1:p.Asn197Ser
NM_000587.3:c.590A>G	NP_000578.2:p.Asn197Ser
NM_000587.4:c.590A>G MANE Select	NP_000578.2:p.Asn197Ser