Canonical Allele Identifier: CA3250015

Gene: C7

Linked Data

• dbSNP Id: rs121964920
• ExAC: 5:40959622 C / T
• gnomAD v2: 5-40959622-C-T
• gnomAD v3: 5-40959520-C-T
• gnomAD v4: 5-40959520-C-T
• COSMIC: COSM5996238 ; COSM5996239
• MyVariant Identifiers: chr5:g.40959622C>T (hg19) ; chr5:g.40959520C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40959520C>T , CM000667.2:g.40959520C>T	GRCh38
NC_000005.9:g.40959622C>T , CM000667.1:g.40959622C>T	GRCh37
NC_000005.8:g.40995379C>T	NCBI36
NG_011692.1:g.55024C>T , LRG_30:g.55024C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696333.1:c.1561C>T	ENSP00000512566.1:p.Arg521Cys
ENST00000696441.1:c.1561C>T	ENSP00000512631.1:p.Arg521Cys
ENST00000706664.1:n.1675C>T
ENST00000706666.1:n.1637C>T
ENST00000706667.1:n.2451C>T
ENST00000706668.1:n.2289C>T
ENST00000313164.10:c.1561C>T MANE Select	ENSP00000322061.9:p.Arg521Cys
ENST00000313164.9:c.1561C>T	ENSP00000322061.9:p.Arg521Cys
NM_000587.2:c.1561C>T , LRG_30t1:c.1561C>T	NP_000578.2:p.Arg521Cys
XM_011514122.1:c.1561C>T	XP_011512424.1:p.Arg521Cys
NM_000587.3:c.1561C>T	NP_000578.2:p.Arg521Cys
NM_000587.4:c.1561C>T MANE Select	NP_000578.2:p.Arg521Cys