Canonical Allele Identifier: CA199379973

Gene: C5

Linked Data

• dbSNP Id: rs1028193334
• gnomAD v2: 9-123716791-G-A
• gnomAD v3: 9-120954513-G-A
• gnomAD v4: 9-120954513-G-A
• MyVariant Identifiers: chr9:g.123716791G>A (hg19) ; chr9:g.120954513G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120954513G>A , CM000671.2:g.120954513G>A	GRCh38
NC_000009.11:g.123716791G>A , CM000671.1:g.123716791G>A	GRCh37
NC_000009.10:g.122756612G>A	NCBI36
NG_007364.1:g.100764C>T , LRG_28:g.100764C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.4568C>T
ENST00000696279.1:c.5083-645C>T
ENST00000696280.1:n.4852-645C>T
ENST00000696281.1:c.4781-645C>T	ENSP00000512521.1:n.4781-645C>T
ENST00000697921.1:n.3641-645C>T
ENST00000697922.1:c.*4753-645C>T	ENSP00000513478.1:n.*4753-645C>T
ENST00000697923.1:n.7979C>T
ENST00000223642.3:c.4763-645C>T MANE Select	ENSP00000223642.1:n.4763-645C>T
ENST00000223642.2:c.4763-645C>T	ENSP00000223642.1:n.4763-645C>T
NM_001735.2:c.4763-645C>T , LRG_28t1:c.4763-645C>T	NP_001726.2:n.4763-645C>T
XM_011518980.1:c.4778-645C>T	XP_011517282.1:n.4778-645C>T
NM_001317163.1:c.4781-645C>T	NP_001304092.1:n.4781-645C>T
NM_001317163.2:c.4781-645C>T	NP_001304092.1:n.4781-645C>T
NM_001735.3:c.4763-645C>T MANE Select	NP_001726.2:n.4763-645C>T