Canonical Allele Identifier: CA466940746

Gene: C5

Linked Data

• gnomAD v4: 9-120962681-G-A
• MyVariant Identifiers: chr9:g.123724959G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962681G>A , CM000671.2:g.120962681G>A	GRCh38
NC_000009.11:g.123724959G>A , CM000671.1:g.123724959G>A	GRCh37
NC_000009.10:g.122764780G>A	NCBI36
NG_007364.1:g.92596C>T , LRG_28:g.92596C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1528C>T
ENST00000696279.1:c.4814C>T
ENST00000696280.1:n.4583C>T
ENST00000696281.1:c.4512C>T	ENSP00000512521.1:p.Tyr1504=
ENST00000697921.1:n.3372C>T
ENST00000697922.1:c.*4484C>T	ENSP00000513478.1:n.*4484C>T
ENST00000697923.1:n.4939C>T
ENST00000223642.3:c.4494C>T MANE Select	ENSP00000223642.1:p.Tyr1498=
ENST00000223642.2:c.4494C>T	ENSP00000223642.1:p.Tyr1498=
ENST00000480188.1:n.27C>T
NM_001735.2:c.4494C>T , LRG_28t1:c.4494C>T	NP_001726.2:p.Tyr1498=
XM_011518980.1:c.4509C>T	XP_011517282.1:p.Tyr1503=
NM_001317163.1:c.4512C>T	NP_001304092.1:p.Tyr1504=
NM_001317163.2:c.4512C>T	NP_001304092.1:p.Tyr1504=
NM_001735.3:c.4494C>T MANE Select	NP_001726.2:p.Tyr1498=