Canonical Allele Identifier: CA559076789

Gene: C7

Linked Data

• dbSNP Id: rs150241786
• gnomAD v2: 5-40964784-C-A
• gnomAD v3: 5-40964682-C-A
• gnomAD v4: 5-40964682-C-A
• MyVariant Identifiers: chr5:g.40964784C>A (hg19) ; chr5:g.40964682C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964682C>A , CM000667.2:g.40964682C>A	GRCh38
NC_000005.9:g.40964784C>A , CM000667.1:g.40964784C>A	GRCh37
NC_000005.8:g.41000541C>A	NCBI36
NG_011692.1:g.60186C>A , LRG_30:g.60186C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000486779.2:n.483C>A
ENST00000696333.1:c.1750-59C>A	ENSP00000512566.1:n.1750-59C>A
ENST00000696441.1:c.1750-59C>A	ENSP00000512631.1:n.1750-59C>A
ENST00000706664.1:n.1864-59C>A
ENST00000706666.1:n.1826-59C>A
ENST00000706667.1:n.2640-59C>A
ENST00000706668.1:n.2478-59C>A
ENST00000313164.10:c.1750-59C>A MANE Select	ENSP00000322061.9:n.1750-59C>A
ENST00000313164.9:c.1750-59C>A	ENSP00000322061.9:n.1750-59C>A
ENST00000486779.1:n.204C>A
NM_000587.2:c.1750-59C>A , LRG_30t1:c.1750-59C>A	NP_000578.2:n.1750-59C>A
XM_011514122.1:c.1750-59C>A	XP_011512424.1:n.1750-59C>A
NM_000587.3:c.1750-59C>A	NP_000578.2:n.1750-59C>A
NM_000587.4:c.1750-59C>A MANE Select	NP_000578.2:n.1750-59C>A