Canonical Allele Identifier: CA359591506

Gene: C7

Linked Data

• MyVariant Identifiers: chr5:g.40964972C>A (hg19) ; chr5:g.40964870C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964870C>A , CM000667.2:g.40964870C>A	GRCh38
NC_000005.9:g.40964972C>A , CM000667.1:g.40964972C>A	GRCh37
NC_000005.8:g.41000729C>A	NCBI36
NG_011692.1:g.60374C>A , LRG_30:g.60374C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486779.2:n.671C>A
ENST00000696333.1:c.1879C>A	ENSP00000512566.1:p.Gln627Lys
ENST00000696441.1:c.1879C>A	ENSP00000512631.1:p.Gln627Lys
ENST00000706664.1:n.1993C>A
ENST00000706666.1:n.1955C>A
ENST00000706667.1:n.2769C>A
ENST00000706668.1:n.2607C>A
ENST00000313164.10:c.1879C>A MANE Select	ENSP00000322061.9:p.Gln627Lys
ENST00000313164.9:c.1879C>A	ENSP00000322061.9:p.Gln627Lys
ENST00000486779.1:n.392C>A
NM_000587.2:c.1879C>A , LRG_30t1:c.1879C>A	NP_000578.2:p.Gln627Lys
XM_011514122.1:c.1879C>A	XP_011512424.1:p.Gln627Lys
NM_000587.3:c.1879C>A	NP_000578.2:p.Gln627Lys
NM_000587.4:c.1879C>A MANE Select	NP_000578.2:p.Gln627Lys