Canonical Allele Identifier: CA1128784049

Gene: C5

Linked Data

• gnomAD v3: 9-120954500-C-A
• gnomAD v4: 9-120954500-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120954500C>A , CM000671.2:g.120954500C>A	GRCh38
NC_000009.11:g.123716778C>A , CM000671.1:g.123716778C>A	GRCh37
NC_000009.10:g.122756599C>A	NCBI36
NG_007364.1:g.100777G>T , LRG_28:g.100777G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.4581G>T
ENST00000696279.1:c.5083-632G>T
ENST00000696280.1:n.4852-632G>T
ENST00000696281.1:c.4781-632G>T	ENSP00000512521.1:n.4781-632G>T
ENST00000697921.1:n.3641-632G>T
ENST00000697922.1:c.*4753-632G>T	ENSP00000513478.1:n.*4753-632G>T
ENST00000697923.1:n.7992G>T
ENST00000223642.3:c.4763-632G>T MANE Select	ENSP00000223642.1:n.4763-632G>T
ENST00000223642.2:c.4763-632G>T	ENSP00000223642.1:n.4763-632G>T
NM_001735.2:c.4763-632G>T , LRG_28t1:c.4763-632G>T	NP_001726.2:n.4763-632G>T
XM_011518980.1:c.4778-632G>T	XP_011517282.1:n.4778-632G>T
NM_001317163.1:c.4781-632G>T	NP_001304092.1:n.4781-632G>T
NM_001317163.2:c.4781-632G>T	NP_001304092.1:n.4781-632G>T
NM_001735.3:c.4763-632G>T MANE Select	NP_001726.2:n.4763-632G>T