Canonical Allele Identifier: CA374749085

Gene: C5

Linked Data

• gnomAD v4: 9-121017737-A-G
• MyVariant Identifiers: chr9:g.123780015A>G (hg19) ; chr9:g.121017737A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.121017737A>G , CM000671.2:g.121017737A>G	GRCh38
NC_000009.11:g.123780015A>G , CM000671.1:g.123780015A>G	GRCh37
NC_000009.10:g.122819836A>G	NCBI36
NG_007364.1:g.37540T>C , LRG_28:g.37540T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000466280.2:c.617T>C	ENSP00000513491.1:p.Leu206Pro
ENST00000696279.1:c.1942T>C
ENST00000696280.1:n.1711T>C
ENST00000696281.1:c.1640T>C	ENSP00000512521.1:p.Leu547Pro
ENST00000697921.1:n.500T>C
ENST00000697922.1:c.*1612T>C	ENSP00000513478.1:n.*1612T>C
ENST00000697923.1:n.2227T>C
ENST00000223642.3:c.1622T>C MANE Select	ENSP00000223642.1:p.Leu541Pro
ENST00000223642.2:c.1622T>C	ENSP00000223642.1:p.Leu541Pro
NM_001735.2:c.1622T>C , LRG_28t1:c.1622T>C	NP_001726.2:p.Leu541Pro
XM_011518980.1:c.1637T>C	XP_011517282.1:p.Leu546Pro
XM_011518981.1:c.1640T>C	XP_011517283.1:p.Leu547Pro
NM_001317163.1:c.1640T>C	NP_001304092.1:p.Leu547Pro
NM_001317164.1:c.1622T>C	NP_001304093.1:p.Leu541Pro
NM_001317163.2:c.1640T>C	NP_001304092.1:p.Leu547Pro
NM_001317164.2:c.1622T>C	NP_001304093.1:p.Leu541Pro
NM_001735.3:c.1622T>C MANE Select	NP_001726.2:p.Leu541Pro