Canonical Allele Identifier: CA2579437711

Gene: C5

Linked Data

• ClinVar Variation Id: 2733722
• ClinVar RCV Id: RCV003562187
• gnomAD v4: 9-120974771-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120974771T>G , CM000671.2:g.120974771T>G	GRCh38
NC_000009.11:g.123737049T>G , CM000671.1:g.123737049T>G	GRCh37
NC_000009.10:g.122776870T>G	NCBI36
NG_007364.1:g.80506A>C , LRG_28:g.80506A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.928+8A>C
ENST00000696279.1:c.4337+8A>C
ENST00000696280.1:n.4106+8A>C
ENST00000696281.1:c.4035+8A>C	ENSP00000512521.1:n.4035+8A>C
ENST00000697921.1:n.2895+8A>C
ENST00000697922.1:c.*4007+8A>C	ENSP00000513478.1:n.*4007+8A>C
ENST00000697923.1:n.4462+8A>C
ENST00000223642.3:c.4017+8A>C MANE Select	ENSP00000223642.1:n.4017+8A>C
ENST00000223642.2:c.4017+8A>C	ENSP00000223642.1:n.4017+8A>C
NM_001735.2:c.4017+8A>C , LRG_28t1:c.4017+8A>C	NP_001726.2:n.4017+8A>C
XM_011518980.1:c.4032+8A>C	XP_011517282.1:n.4032+8A>C
NM_001317163.1:c.4035+8A>C	NP_001304092.1:n.4035+8A>C
NM_001317163.2:c.4035+8A>C	NP_001304092.1:n.4035+8A>C
NM_001735.3:c.4017+8A>C MANE Select	NP_001726.2:n.4017+8A>C