Canonical Allele Identifier: CA1541437595
Gene: C7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.40964754T= , CM000667.2:g.40964754T= GRCh38
NC_000005.9:g.40964856T= , CM000667.1:g.40964856T= GRCh37
NC_000005.8:g.41000613T= NCBI36
NG_011692.1:g.60258T= , LRG_30:g.60258T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000486779.2:n.555T=
ENST00000696333.1:c.1763T= ENSP00000512566.1:p.Met588=
ENST00000696441.1:c.1763T= ENSP00000512631.1:p.Met588=
ENST00000706664.1:n.1877T=
ENST00000706666.1:n.1839T=
ENST00000706667.1:n.2653T=
ENST00000706668.1:n.2491T=
ENST00000313164.10:c.1763T= MANE Select ENSP00000322061.9:p.Met588=
ENST00000313164.9:c.1763T= ENSP00000322061.9:p.Met588=
ENST00000486779.1:n.276T=
NM_000587.2:c.1763T= , LRG_30t1:c.1763T= NP_000578.2:p.Met588=
XM_011514122.1:c.1763T= XP_011512424.1:p.Met588=
NM_000587.3:c.1763T= NP_000578.2:p.Met588=
NM_000587.4:c.1763T= MANE Select NP_000578.2:p.Met588=