Canonical Allele Identifier: CA403645229

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6718356A>C (hg19) ; chr19:g.6718345A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6718345A>C , CM000681.2:g.6718345A>C	GRCh38
NC_000019.9:g.6718356A>C , CM000681.1:g.6718356A>C	GRCh37
NC_000019.8:g.6669356A>C	NCBI36
NG_009557.1:g.7307T>G , LRG_27:g.7307T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000594936.2:n.396T>G
ENST00000695652.1:c.212T>G	ENSP00000512083.1:p.Phe71Cys
ENST00000695693.1:c.335T>G	ENSP00000512104.1:p.Phe112Cys
ENST00000245907.11:c.335T>G MANE Select	ENSP00000245907.4:p.Phe112Cys
ENST00000245907.10:c.335T>G	ENSP00000245907.4:p.Phe112Cys
ENST00000594936.1:n.396T>G
ENST00000600744.1:c.212T>G	ENSP00000472044.1:p.Phe71Cys
NM_000064.3:c.335T>G	NP_000055.2:p.Phe112Cys
NM_000064.4:c.335T>G MANE Select	NP_000055.2:p.Phe112Cys