Canonical Allele Identifier: CA359590729

Gene: C7

Linked Data

• MyVariant Identifiers: chr5:g.40964860T>G (hg19) ; chr5:g.40964758T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964758T>G , CM000667.2:g.40964758T>G	GRCh38
NC_000005.9:g.40964860T>G , CM000667.1:g.40964860T>G	GRCh37
NC_000005.8:g.41000617T>G	NCBI36
NG_011692.1:g.60262T>G , LRG_30:g.60262T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486779.2:n.559T>G
ENST00000696333.1:c.1767T>G	ENSP00000512566.1:p.Phe589Leu
ENST00000696441.1:c.1767T>G	ENSP00000512631.1:p.Phe589Leu
ENST00000706664.1:n.1881T>G
ENST00000706666.1:n.1843T>G
ENST00000706667.1:n.2657T>G
ENST00000706668.1:n.2495T>G
ENST00000313164.10:c.1767T>G MANE Select	ENSP00000322061.9:p.Phe589Leu
ENST00000313164.9:c.1767T>G	ENSP00000322061.9:p.Phe589Leu
ENST00000486779.1:n.280T>G
NM_000587.2:c.1767T>G , LRG_30t1:c.1767T>G	NP_000578.2:p.Phe589Leu
XM_011514122.1:c.1767T>G	XP_011512424.1:p.Phe589Leu
NM_000587.3:c.1767T>G	NP_000578.2:p.Phe589Leu
NM_000587.4:c.1767T>G MANE Select	NP_000578.2:p.Phe589Leu