Canonical Allele Identifier: CA5218024

Gene: C5

Linked Data

• dbSNP Id: rs771775797
• ExAC: 9:123780011 G / A
• gnomAD v2: 9-123780011-G-A
• gnomAD v4: 9-121017733-G-A
• MyVariant Identifiers: chr9:g.123780011G>A (hg19) ; chr9:g.121017733G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.121017733G>A , CM000671.2:g.121017733G>A	GRCh38
NC_000009.11:g.123780011G>A , CM000671.1:g.123780011G>A	GRCh37
NC_000009.10:g.122819832G>A	NCBI36
NG_007364.1:g.37544C>T , LRG_28:g.37544C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000466280.2:c.621C>T	ENSP00000513491.1:p.Val207=
ENST00000696279.1:c.1946C>T
ENST00000696280.1:n.1715C>T
ENST00000696281.1:c.1644C>T	ENSP00000512521.1:p.Val548=
ENST00000697921.1:n.504C>T
ENST00000697922.1:c.*1616C>T	ENSP00000513478.1:n.*1616C>T
ENST00000697923.1:n.2231C>T
ENST00000223642.3:c.1626C>T MANE Select	ENSP00000223642.1:p.Val542=
ENST00000223642.2:c.1626C>T	ENSP00000223642.1:p.Val542=
NM_001735.2:c.1626C>T , LRG_28t1:c.1626C>T	NP_001726.2:p.Val542=
XM_011518980.1:c.1641C>T	XP_011517282.1:p.Val547=
XM_011518981.1:c.1644C>T	XP_011517283.1:p.Val548=
NM_001317163.1:c.1644C>T	NP_001304092.1:p.Val548=
NM_001317164.1:c.1626C>T	NP_001304093.1:p.Val542=
NM_001317163.2:c.1644C>T	NP_001304092.1:p.Val548=
NM_001317164.2:c.1626C>T	NP_001304093.1:p.Val542=
NM_001735.3:c.1626C>T MANE Select	NP_001726.2:p.Val542=