Canonical Allele Identifier: CA1541437930

Gene: C7

Linked Data

• dbSNP Id: rs1732160679
• gnomAD v4: 5-40964928-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964928T>C , CM000667.2:g.40964928T>C	GRCh38
NC_000005.9:g.40965030T>C , CM000667.1:g.40965030T>C	GRCh37
NC_000005.8:g.41000787T>C	NCBI36
NG_011692.1:g.60432T>C , LRG_30:g.60432T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486779.2:n.674+55T>C
ENST00000696333.1:c.1882+55T>C	ENSP00000512566.1:n.1882+55T>C
ENST00000696441.1:c.1882+55T>C	ENSP00000512631.1:n.1882+55T>C
ENST00000706664.1:n.1996+55T>C
ENST00000706666.1:n.1958+55T>C
ENST00000706667.1:n.2772+55T>C
ENST00000706668.1:n.2610+55T>C
ENST00000313164.10:c.1882+55T>C MANE Select	ENSP00000322061.9:n.1882+55T>C
ENST00000313164.9:c.1882+55T>C	ENSP00000322061.9:n.1882+55T>C
ENST00000486779.1:n.395+55T>C
NM_000587.2:c.1882+55T>C , LRG_30t1:c.1882+55T>C	NP_000578.2:n.1882+55T>C
XM_011514122.1:c.1882+55T>C	XP_011512424.1:n.1882+55T>C
NM_000587.3:c.1882+55T>C	NP_000578.2:n.1882+55T>C
NM_000587.4:c.1882+55T>C MANE Select	NP_000578.2:n.1882+55T>C