Canonical Allele Identifier: CA374747929

Gene: C5

Linked Data

• gnomAD v4: 9-120962964-C-T
• MyVariant Identifiers: chr9:g.123725242C>T (hg19) ; chr9:g.120962964C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962964C>T , CM000671.2:g.120962964C>T	GRCh38
NC_000009.11:g.123725242C>T , CM000671.1:g.123725242C>T	GRCh37
NC_000009.10:g.122765063C>T	NCBI36
NG_007364.1:g.92313G>A , LRG_28:g.92313G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1361G>A
ENST00000696279.1:c.4647G>A
ENST00000696280.1:n.4416G>A
ENST00000696281.1:c.4345G>A	ENSP00000512521.1:p.Val1449Met
ENST00000697921.1:n.3205G>A
ENST00000697922.1:c.*4317G>A	ENSP00000513478.1:n.*4317G>A
ENST00000697923.1:n.4772G>A
ENST00000223642.3:c.4327G>A MANE Select	ENSP00000223642.1:p.Val1443Met
ENST00000223642.2:c.4327G>A	ENSP00000223642.1:p.Val1443Met
NM_001735.2:c.4327G>A , LRG_28t1:c.4327G>A	NP_001726.2:p.Val1443Met
XM_011518980.1:c.4342G>A	XP_011517282.1:p.Val1448Met
NM_001317163.1:c.4345G>A	NP_001304092.1:p.Val1449Met
NM_001317163.2:c.4345G>A	NP_001304092.1:p.Val1449Met
NM_001735.3:c.4327G>A MANE Select	NP_001726.2:p.Val1443Met