Canonical Allele Identifier: CA1541437933
Gene: C7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.40964929G= , CM000667.2:g.40964929G= GRCh38
NC_000005.9:g.40965031G= , CM000667.1:g.40965031G= GRCh37
NC_000005.8:g.41000788G= NCBI36
NG_011692.1:g.60433G= , LRG_30:g.60433G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000486779.2:n.674+56G=
ENST00000696333.1:c.1882+56G= ENSP00000512566.1:n.1882+56G=
ENST00000696441.1:c.1882+56G= ENSP00000512631.1:n.1882+56G=
ENST00000706664.1:n.1996+56G=
ENST00000706666.1:n.1958+56G=
ENST00000706667.1:n.2772+56G=
ENST00000706668.1:n.2610+56G=
ENST00000313164.10:c.1882+56G= MANE Select ENSP00000322061.9:n.1882+56G=
ENST00000313164.9:c.1882+56G= ENSP00000322061.9:n.1882+56G=
ENST00000486779.1:n.395+56G=
NM_000587.2:c.1882+56G= , LRG_30t1:c.1882+56G= NP_000578.2:n.1882+56G=
XM_011514122.1:c.1882+56G= XP_011512424.1:n.1882+56G=
NM_000587.3:c.1882+56G= NP_000578.2:n.1882+56G=
NM_000587.4:c.1882+56G= MANE Select NP_000578.2:n.1882+56G=