Canonical Allele Identifier: CA3249873

Gene: C7

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40955429G>C , CM000667.2:g.40955429G>C	GRCh38
NC_000005.9:g.40955531G>C , CM000667.1:g.40955531G>C	GRCh37
NC_000005.8:g.40991288G>C	NCBI36
NG_011692.1:g.50933G>C , LRG_30:g.50933G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000587.4:c.1136G>C MANE Select	NP_000578.2:p.Gly379Ala
ENST00000313164.10:c.1136G>C MANE Select	ENSP00000322061.9:p.Gly379Ala
NM_000587.2:c.1136G>C , LRG_30t1:c.1136G>C	NP_000578.2:p.Gly379Ala
NM_000587.3:c.1136G>C	NP_000578.2:p.Gly379Ala
ENST00000313164.9:c.1136G>C	ENSP00000322061.9:p.Gly379Ala
ENST00000696333.1:c.1136G>C	ENSP00000512566.1:p.Gly379Ala
ENST00000696441.1:c.1136G>C	ENSP00000512631.1:p.Gly379Ala
ENST00000706664.1:n.1250G>C
ENST00000706666.1:n.1212G>C
ENST00000706667.1:n.2026G>C
ENST00000706668.1:n.1864G>C
XM_011514122.1:c.1136G>C	XP_011512424.1:p.Gly379Ala