Canonical Allele Identifier: CA374745961

Gene: C5

Linked Data

• ClinVar Variation Id: 1481684
• ClinVar RCV Id: RCV002024993
• dbSNP Id: rs2131669492
• gnomAD v4: 9-120962673-G-A
• MyVariant Identifiers: chr9:g.123724951G>A (hg19) ; chr9:g.120962673G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962673G>A , CM000671.2:g.120962673G>A	GRCh38
NC_000009.11:g.123724951G>A , CM000671.1:g.123724951G>A	GRCh37
NC_000009.10:g.122764772G>A	NCBI36
NG_007364.1:g.92604C>T , LRG_28:g.92604C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1536C>T
ENST00000696279.1:c.4822C>T
ENST00000696280.1:n.4591C>T
ENST00000696281.1:c.4520C>T	ENSP00000512521.1:p.Pro1507Leu
ENST00000697921.1:n.3380C>T
ENST00000697922.1:c.*4492C>T	ENSP00000513478.1:n.*4492C>T
ENST00000697923.1:n.4947C>T
ENST00000223642.3:c.4502C>T MANE Select	ENSP00000223642.1:p.Pro1501Leu
ENST00000223642.2:c.4502C>T	ENSP00000223642.1:p.Pro1501Leu
ENST00000480188.1:n.35C>T
NM_001735.2:c.4502C>T , LRG_28t1:c.4502C>T	NP_001726.2:p.Pro1501Leu
XM_011518980.1:c.4517C>T	XP_011517282.1:p.Pro1506Leu
NM_001317163.1:c.4520C>T	NP_001304092.1:p.Pro1507Leu
NM_001317163.2:c.4520C>T	NP_001304092.1:p.Pro1507Leu
NM_001735.3:c.4502C>T MANE Select	NP_001726.2:p.Pro1501Leu