Canonical Allele Identifier: CA359591445

Gene: C7

Linked Data

• MyVariant Identifiers: chr5:g.40964964T>G (hg19) ; chr5:g.40964862T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964862T>G , CM000667.2:g.40964862T>G	GRCh38
NC_000005.9:g.40964964T>G , CM000667.1:g.40964964T>G	GRCh37
NC_000005.8:g.41000721T>G	NCBI36
NG_011692.1:g.60366T>G , LRG_30:g.60366T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486779.2:n.663T>G
ENST00000696333.1:c.1871T>G	ENSP00000512566.1:p.Met624Arg
ENST00000696441.1:c.1871T>G	ENSP00000512631.1:p.Met624Arg
ENST00000706664.1:n.1985T>G
ENST00000706666.1:n.1947T>G
ENST00000706667.1:n.2761T>G
ENST00000706668.1:n.2599T>G
ENST00000313164.10:c.1871T>G MANE Select	ENSP00000322061.9:p.Met624Arg
ENST00000313164.9:c.1871T>G	ENSP00000322061.9:p.Met624Arg
ENST00000486779.1:n.384T>G
NM_000587.2:c.1871T>G , LRG_30t1:c.1871T>G	NP_000578.2:p.Met624Arg
XM_011514122.1:c.1871T>G	XP_011512424.1:p.Met624Arg
NM_000587.3:c.1871T>G	NP_000578.2:p.Met624Arg
NM_000587.4:c.1871T>G MANE Select	NP_000578.2:p.Met624Arg