Canonical Allele Identifier: CA5217256

Gene: C5

Linked Data

• dbSNP Id: rs142157475
• ExAC: 9:123731377 G / T
• gnomAD v2: 9-123731377-G-T
• gnomAD v4: 9-120969099-G-T
• MyVariant Identifiers: chr9:g.123731377G>T (hg19) ; chr9:g.120969099G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120969099G>T , CM000671.2:g.120969099G>T	GRCh38
NC_000009.11:g.123731377G>T , CM000671.1:g.123731377G>T	GRCh37
NC_000009.10:g.122771198G>T	NCBI36
NG_007364.1:g.86178C>A , LRG_28:g.86178C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1216C>A
ENST00000696279.1:c.4502C>A
ENST00000696280.1:n.4271C>A
ENST00000696281.1:c.4200C>A	ENSP00000512521.1:p.Tyr1400Ter
ENST00000697921.1:n.3060C>A
ENST00000697922.1:c.*4172C>A	ENSP00000513478.1:n.*4172C>A
ENST00000697923.1:n.4627C>A
ENST00000223642.3:c.4182C>A MANE Select	ENSP00000223642.1:p.Tyr1394Ter
ENST00000223642.2:c.4182C>A	ENSP00000223642.1:p.Tyr1394Ter
NM_001735.2:c.4182C>A , LRG_28t1:c.4182C>A	NP_001726.2:p.Tyr1394Ter
XM_011518980.1:c.4197C>A	XP_011517282.1:p.Tyr1399Ter
NM_001317163.1:c.4200C>A	NP_001304092.1:p.Tyr1400Ter
NM_001317163.2:c.4200C>A	NP_001304092.1:p.Tyr1400Ter
NM_001735.3:c.4182C>A MANE Select	NP_001726.2:p.Tyr1394Ter