Canonical Allele Identifier: CA443960828

Gene: C7

Linked Data

• dbSNP Id: rs369904535
• gnomAD v3: 5-40964764-G-A
• gnomAD v4: 5-40964764-G-A
• MyVariant Identifiers: chr5:g.40964866G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964764G>A , CM000667.2:g.40964764G>A	GRCh38
NC_000005.9:g.40964866G>A , CM000667.1:g.40964866G>A	GRCh37
NC_000005.8:g.41000623G>A	NCBI36
NG_011692.1:g.60268G>A , LRG_30:g.60268G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486779.2:n.565G>A
ENST00000696333.1:c.1773G>A	ENSP00000512566.1:p.Val591=
ENST00000696441.1:c.1773G>A	ENSP00000512631.1:p.Val591=
ENST00000706664.1:n.1887G>A
ENST00000706666.1:n.1849G>A
ENST00000706667.1:n.2663G>A
ENST00000706668.1:n.2501G>A
ENST00000313164.10:c.1773G>A MANE Select	ENSP00000322061.9:p.Val591=
ENST00000313164.9:c.1773G>A	ENSP00000322061.9:p.Val591=
ENST00000486779.1:n.286G>A
NM_000587.2:c.1773G>A , LRG_30t1:c.1773G>A	NP_000578.2:p.Val591=
XM_011514122.1:c.1773G>A	XP_011512424.1:p.Val591=
NM_000587.3:c.1773G>A	NP_000578.2:p.Val591=
NM_000587.4:c.1773G>A MANE Select	NP_000578.2:p.Val591=