Canonical Allele Identifier: CA2673688307

Gene: C7

Linked Data

• gnomAD v4: 5-40964652-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964652T>C , CM000667.2:g.40964652T>C	GRCh38
NC_000005.9:g.40964754T>C , CM000667.1:g.40964754T>C	GRCh37
NC_000005.8:g.41000511T>C	NCBI36
NG_011692.1:g.60156T>C , LRG_30:g.60156T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486779.2:n.453T>C
ENST00000696333.1:c.1750-89T>C	ENSP00000512566.1:n.1750-89T>C
ENST00000696441.1:c.1750-89T>C	ENSP00000512631.1:n.1750-89T>C
ENST00000706664.1:n.1864-89T>C
ENST00000706666.1:n.1826-89T>C
ENST00000706667.1:n.2640-89T>C
ENST00000706668.1:n.2478-89T>C
ENST00000313164.10:c.1750-89T>C MANE Select	ENSP00000322061.9:n.1750-89T>C
ENST00000313164.9:c.1750-89T>C	ENSP00000322061.9:n.1750-89T>C
ENST00000486779.1:n.174T>C
NM_000587.2:c.1750-89T>C , LRG_30t1:c.1750-89T>C	NP_000578.2:n.1750-89T>C
XM_011514122.1:c.1750-89T>C	XP_011512424.1:n.1750-89T>C
NM_000587.3:c.1750-89T>C	NP_000578.2:n.1750-89T>C
NM_000587.4:c.1750-89T>C MANE Select	NP_000578.2:n.1750-89T>C