Canonical Allele Identifier: CA2691481265

Gene: C5

Linked Data

• gnomAD v4: 9-120974775-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120974775T>C , CM000671.2:g.120974775T>C	GRCh38
NC_000009.11:g.123737053T>C , CM000671.1:g.123737053T>C	GRCh37
NC_000009.10:g.122776874T>C	NCBI36
NG_007364.1:g.80502A>G , LRG_28:g.80502A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.928+4A>G
ENST00000696279.1:c.4337+4A>G
ENST00000696280.1:n.4106+4A>G
ENST00000696281.1:c.4035+4A>G	ENSP00000512521.1:n.4035+4A>G
ENST00000697921.1:n.2895+4A>G
ENST00000697922.1:c.*4007+4A>G	ENSP00000513478.1:n.*4007+4A>G
ENST00000697923.1:n.4462+4A>G
ENST00000223642.3:c.4017+4A>G MANE Select	ENSP00000223642.1:n.4017+4A>G
ENST00000223642.2:c.4017+4A>G	ENSP00000223642.1:n.4017+4A>G
NM_001735.2:c.4017+4A>G , LRG_28t1:c.4017+4A>G	NP_001726.2:n.4017+4A>G
XM_011518980.1:c.4032+4A>G	XP_011517282.1:n.4032+4A>G
NM_001317163.1:c.4035+4A>G	NP_001304092.1:n.4035+4A>G
NM_001317163.2:c.4035+4A>G	NP_001304092.1:n.4035+4A>G
NM_001735.3:c.4017+4A>G MANE Select	NP_001726.2:n.4017+4A>G