Canonical Allele Identifier: CA3249541

Gene: C7

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40934316T>C , CM000667.2:g.40934316T>C	GRCh38
NC_000005.9:g.40934418T>C , CM000667.1:g.40934418T>C	GRCh37
NC_000005.8:g.40970175T>C	NCBI36
NG_011692.1:g.29820T>C , LRG_30:g.29820T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489457.2:c.139-9T>C	ENSP00000512585.1:n.139-9T>C
ENST00000696333.1:c.139-9T>C	ENSP00000512566.1:n.139-9T>C
ENST00000696441.1:c.139-9T>C	ENSP00000512631.1:n.139-9T>C
ENST00000706664.1:n.253-9T>C
ENST00000706666.1:n.215-9T>C
ENST00000706667.1:n.887-9T>C
ENST00000706668.1:n.867-9T>C
ENST00000313164.10:c.139-9T>C MANE Select	ENSP00000322061.9:n.139-9T>C
ENST00000313164.9:c.139-9T>C	ENSP00000322061.9:n.139-9T>C
NM_000587.2:c.139-9T>C , LRG_30t1:c.139-9T>C	NP_000578.2:n.139-9T>C
XM_011514122.1:c.139-9T>C	XP_011512424.1:n.139-9T>C
NM_000587.3:c.139-9T>C	NP_000578.2:n.139-9T>C
NM_000587.4:c.139-9T>C MANE Select	NP_000578.2:n.139-9T>C