Canonical Allele Identifier: CA359593662

Gene: C7

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40972567A>T , CM000667.2:g.40972567A>T	GRCh38
NC_000005.9:g.40972669A>T , CM000667.1:g.40972669A>T	GRCh37
NC_000005.8:g.41008426A>T	NCBI36
NG_011692.1:g.68071A>T , LRG_30:g.68071A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486779.2:n.839A>T
ENST00000696333.1:c.2047A>T	ENSP00000512566.1:p.Met683Leu
ENST00000696441.1:c.2047A>T	ENSP00000512631.1:p.Met683Leu
ENST00000706664.1:n.2161A>T
ENST00000706666.1:n.2123A>T
ENST00000706667.1:n.2937A>T
ENST00000706668.1:n.2775A>T
ENST00000313164.10:c.2047A>T MANE Select	ENSP00000322061.9:p.Met683Leu
ENST00000313164.9:c.2047A>T	ENSP00000322061.9:p.Met683Leu
ENST00000486779.1:n.560A>T
ENST00000494960.5:n.47A>T
ENST00000513922.1:n.165A>T
NM_000587.2:c.2047A>T , LRG_30t1:c.2047A>T	NP_000578.2:p.Met683Leu
XM_011514122.1:c.2047A>T	XP_011512424.1:p.Met683Leu
NM_000587.3:c.2047A>T	NP_000578.2:p.Met683Leu
NM_000587.4:c.2047A>T MANE Select	NP_000578.2:p.Met683Leu