Canonical Allele Identifier: CA3249968

Gene: C7

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40958223C>T , CM000667.2:g.40958223C>T	GRCh38
NC_000005.9:g.40958325C>T , CM000667.1:g.40958325C>T	GRCh37
NC_000005.8:g.40994082C>T	NCBI36
NG_011692.1:g.53727C>T , LRG_30:g.53727C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000587.4:c.1451C>T MANE Select	NP_000578.2:p.Ala484Val
ENST00000313164.10:c.1451C>T MANE Select	ENSP00000322061.9:p.Ala484Val
NM_000587.2:c.1451C>T , LRG_30t1:c.1451C>T	NP_000578.2:p.Ala484Val
NM_000587.3:c.1451C>T	NP_000578.2:p.Ala484Val
ENST00000313164.9:c.1451C>T	ENSP00000322061.9:p.Ala484Val
ENST00000696333.1:c.1451C>T	ENSP00000512566.1:p.Ala484Val
ENST00000696441.1:c.1451C>T	ENSP00000512631.1:p.Ala484Val
ENST00000706664.1:n.1565C>T
ENST00000706666.1:n.1527C>T
ENST00000706667.1:n.2341C>T
ENST00000706668.1:n.2179C>T
XM_011514122.1:c.1451C>T	XP_011512424.1:p.Ala484Val