Canonical Allele Identifier: CA127070

Gene: C1QA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.22639291C>T , CM000663.2:g.22639291C>T	GRCh38
NC_000001.10:g.22965784C>T , CM000663.1:g.22965784C>T	GRCh37
NC_000001.9:g.22838371C>T	NCBI36
NG_007282.1:g.7667C>T , LRG_22:g.7667C>T
NG_007565.1:g.667C>T , LRG_24:g.667C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015991.4:c.622C>T MANE Select	NP_057075.1:p.Gln208Ter
ENST00000374642.8:c.622C>T MANE Select	ENSP00000363773.3:p.Gln208Ter
NM_001347465.1:c.622C>T	NP_001334394.1:p.Gln208Ter
NM_001347465.2:c.622C>T	NP_001334394.1:p.Gln208Ter
NM_001347466.1:c.622C>T	NP_001334395.1:p.Gln208Ter
NM_001347466.2:c.622C>T	NP_001334395.1:p.Gln208Ter
NM_015991.2:c.622C>T , LRG_22t1:c.622C>T	NP_057075.1:p.Gln208Ter
NM_015991.3:c.622C>T	NP_057075.1:p.Gln208Ter
ENST00000374642.7:c.622C>T	ENSP00000363773.3:p.Gln208Ter
ENST00000402322.1:c.622C>T	ENSP00000385564.1:p.Gln208Ter
ENST00000402322.2:c.622C>T	ENSP00000385564.1:p.Gln208Ter
ENST00000438241.1:c.622C>T	ENSP00000416841.1:p.Gln208Ter
ENST00000438241.2:c.622C>T	ENSP00000416841.2:p.Gln208Ter
ENST00000695738.1:c.247C>T	ENSP00000512131.1:p.Gln83Ter
ENST00000695739.1:c.*616C>T	ENSP00000512132.1:n.*616C>T
ENST00000695740.1:c.622C>T	ENSP00000512133.1:p.Gln208Ter
ENST00000695741.1:c.*909C>T	ENSP00000512134.1:n.*909C>T
ENST00000695742.1:c.*836C>T	ENSP00000512135.1:n.*836C>T
ENST00000695743.1:c.*1166C>T	ENSP00000512136.1:n.*1166C>T
ENST00000695744.1:c.622C>T	ENSP00000512137.1:p.Gln208Ter
ENST00000695745.1:c.247C>T	ENSP00000512138.1:p.Gln83Ter
ENST00000695746.1:c.*616C>T	ENSP00000512139.1:n.*616C>T
ENST00000695747.1:c.492+130C>T	ENSP00000512140.1:n.492+130C>T
ENST00000695748.1:c.492+130C>T	ENSP00000512141.1:n.492+130C>T