Canonical Allele Identifier: CA2691480490

Gene: C5

Linked Data

• gnomAD v4: 9-120963015-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120963015G>T , CM000671.2:g.120963015G>T	GRCh38
NC_000009.11:g.123725293G>T , CM000671.1:g.123725293G>T	GRCh37
NC_000009.10:g.122765114G>T	NCBI36
NG_007364.1:g.92262C>A , LRG_28:g.92262C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1358-48C>A
ENST00000696279.1:c.4644-48C>A
ENST00000696280.1:n.4413-48C>A
ENST00000696281.1:c.4342-48C>A	ENSP00000512521.1:n.4342-48C>A
ENST00000697921.1:n.3202-48C>A
ENST00000697922.1:c.*4314-48C>A	ENSP00000513478.1:n.*4314-48C>A
ENST00000697923.1:n.4769-48C>A
ENST00000223642.3:c.4324-48C>A MANE Select	ENSP00000223642.1:n.4324-48C>A
ENST00000223642.2:c.4324-48C>A	ENSP00000223642.1:n.4324-48C>A
NM_001735.2:c.4324-48C>A , LRG_28t1:c.4324-48C>A	NP_001726.2:n.4324-48C>A
XM_011518980.1:c.4339-48C>A	XP_011517282.1:n.4339-48C>A
NM_001317163.1:c.4342-48C>A	NP_001304092.1:n.4342-48C>A
NM_001317163.2:c.4342-48C>A	NP_001304092.1:n.4342-48C>A
NM_001735.3:c.4324-48C>A MANE Select	NP_001726.2:n.4324-48C>A