Canonical Allele Identifier: CA383704711

Gene: C1S

Linked Data

• gnomAD v4: 12-7070088-A-G
• MyVariant Identifiers: chr12:g.7177392A>G (hg19) ; chr12:g.7070088A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7070088A>G , CM000674.2:g.7070088A>G	GRCh38
NC_000012.11:g.7177392A>G , CM000674.1:g.7177392A>G	GRCh37
NC_000012.10:g.7047653A>G	NCBI36
NG_011694.1:g.14413A>G , LRG_25:g.14413A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000473545.2:n.4240A>G
ENST00000488701.2:n.2021A>G
ENST00000495053.2:n.3580A>G
ENST00000698563.1:n.4883A>G
ENST00000698564.1:n.3330A>G
ENST00000698565.1:n.3439A>G
ENST00000360817.10:c.1504A>G MANE Select	ENSP00000354057.5:p.Met502Val
ENST00000328916.7:c.1504A>G	ENSP00000328173.3:p.Met502Val
ENST00000360817.9:c.1504A>G	ENSP00000354057.5:p.Met502Val
ENST00000402681.7:c.1003A>G	ENSP00000384171.3:p.Met335Val
ENST00000406697.5:c.1504A>G	ENSP00000385035.1:p.Met502Val
ENST00000443875.5:c.1608A>G
ENST00000461983.5:n.925A>G
ENST00000495061.5:n.680A>G
ENST00000617865.4:c.1486A>G	ENSP00000484657.1:p.Met496Val
NM_001734.3:c.1504A>G , LRG_25t1:c.1504A>G	NP_001725.1:p.Met502Val
NM_201442.2:c.1504A>G	NP_958850.1:p.Met502Val
XM_005253760.1:c.1504A>G	XP_005253817.1:p.Met502Val
NM_001346850.1:c.1003A>G	NP_001333779.1:p.Met335Val
NM_001734.4:c.1504A>G	NP_001725.1:p.Met502Val
NM_201442.3:c.1504A>G	NP_958850.1:p.Met502Val
XM_005253760.2:c.1504A>G	XP_005253817.1:p.Met502Val
NM_001734.5:c.1504A>G MANE Select	NP_001725.1:p.Met502Val
NM_001346850.2:c.1003A>G	NP_001333779.1:p.Met335Val
NM_201442.4:c.1504A>G	NP_958850.1:p.Met502Val