Canonical Allele Identifier: CA2673688310

Gene: C7

Linked Data

• gnomAD v4: 5-40964653-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964653G>T , CM000667.2:g.40964653G>T	GRCh38
NC_000005.9:g.40964755G>T , CM000667.1:g.40964755G>T	GRCh37
NC_000005.8:g.41000512G>T	NCBI36
NG_011692.1:g.60157G>T , LRG_30:g.60157G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000486779.2:n.454G>T
ENST00000696333.1:c.1750-88G>T	ENSP00000512566.1:n.1750-88G>T
ENST00000696441.1:c.1750-88G>T	ENSP00000512631.1:n.1750-88G>T
ENST00000706664.1:n.1864-88G>T
ENST00000706666.1:n.1826-88G>T
ENST00000706667.1:n.2640-88G>T
ENST00000706668.1:n.2478-88G>T
ENST00000313164.10:c.1750-88G>T MANE Select	ENSP00000322061.9:n.1750-88G>T
ENST00000313164.9:c.1750-88G>T	ENSP00000322061.9:n.1750-88G>T
ENST00000486779.1:n.175G>T
NM_000587.2:c.1750-88G>T , LRG_30t1:c.1750-88G>T	NP_000578.2:n.1750-88G>T
XM_011514122.1:c.1750-88G>T	XP_011512424.1:n.1750-88G>T
NM_000587.3:c.1750-88G>T	NP_000578.2:n.1750-88G>T
NM_000587.4:c.1750-88G>T MANE Select	NP_000578.2:n.1750-88G>T