Canonical Allele Identifier: CA1876869066
Community Standard Title: NM_001735.3(C5):c.4081-604T=
Gene: C5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120970855A= , CM000671.2:g.120970855A= GRCh38
NC_000009.11:g.123733133A= , CM000671.1:g.123733133A= GRCh37
NC_000009.10:g.122772954A= NCBI36
NG_007364.1:g.84422T= , LRG_28:g.84422T=

Transcript Alleles

HGVS Amino-acid Change
NM_001735.3:c.4081-604T= MANE Select NP_001726.2:n.4081-604T=
ENST00000223642.3:c.4081-604T= MANE Select ENSP00000223642.1:n.4081-604T=
NM_001317163.1:c.4099-604T= NP_001304092.1:n.4099-604T=
NM_001317163.2:c.4099-604T= NP_001304092.1:n.4099-604T=
NM_001735.2:c.4081-604T= , LRG_28t1:c.4081-604T= NP_001726.2:n.4081-604T=
ENST00000223642.2:c.4081-604T= ENSP00000223642.1:n.4081-604T=
ENST00000480188.2:n.1114+30T=
ENST00000696279.1:c.4401-604T=
ENST00000696280.1:n.4170-604T=
ENST00000696281.1:c.4099-604T= ENSP00000512521.1:n.4099-604T=
ENST00000697921.1:n.2959-604T=
ENST00000697922.1:c.*4071-604T= ENSP00000513478.1:n.*4071-604T=
ENST00000697923.1:n.4526-604T=
XM_011518980.1:c.4096-604T= XP_011517282.1:n.4096-604T=