Canonical Allele Identifier: CA359591520

Gene: C7

Linked Data

• MyVariant Identifiers: chr5:g.40964974G>C (hg19) ; chr5:g.40964872G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964872G>C , CM000667.2:g.40964872G>C	GRCh38
NC_000005.9:g.40964974G>C , CM000667.1:g.40964974G>C	GRCh37
NC_000005.8:g.41000731G>C	NCBI36
NG_011692.1:g.60376G>C , LRG_30:g.60376G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486779.2:n.673G>C
ENST00000696333.1:c.1881G>C	ENSP00000512566.1:p.Gln627His
ENST00000696441.1:c.1881G>C	ENSP00000512631.1:p.Gln627His
ENST00000706664.1:n.1995G>C
ENST00000706666.1:n.1957G>C
ENST00000706667.1:n.2771G>C
ENST00000706668.1:n.2609G>C
ENST00000313164.10:c.1881G>C MANE Select	ENSP00000322061.9:p.Gln627His
ENST00000313164.9:c.1881G>C	ENSP00000322061.9:p.Gln627His
ENST00000486779.1:n.394G>C
NM_000587.2:c.1881G>C , LRG_30t1:c.1881G>C	NP_000578.2:p.Gln627His
XM_011514122.1:c.1881G>C	XP_011512424.1:p.Gln627His
NM_000587.3:c.1881G>C	NP_000578.2:p.Gln627His
NM_000587.4:c.1881G>C MANE Select	NP_000578.2:p.Gln627His