Canonical Allele Identifier: CA1541437441

Gene: C7

Linked Data

• dbSNP Id: rs1740505048
• gnomAD v4: 5-40964668-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964668T>C , CM000667.2:g.40964668T>C	GRCh38
NC_000005.9:g.40964770T>C , CM000667.1:g.40964770T>C	GRCh37
NC_000005.8:g.41000527T>C	NCBI36
NG_011692.1:g.60172T>C , LRG_30:g.60172T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000486779.2:n.469T>C
ENST00000696333.1:c.1750-73T>C	ENSP00000512566.1:n.1750-73T>C
ENST00000696441.1:c.1750-73T>C	ENSP00000512631.1:n.1750-73T>C
ENST00000706664.1:n.1864-73T>C
ENST00000706666.1:n.1826-73T>C
ENST00000706667.1:n.2640-73T>C
ENST00000706668.1:n.2478-73T>C
ENST00000313164.10:c.1750-73T>C MANE Select	ENSP00000322061.9:n.1750-73T>C
ENST00000313164.9:c.1750-73T>C	ENSP00000322061.9:n.1750-73T>C
ENST00000486779.1:n.190T>C
NM_000587.2:c.1750-73T>C , LRG_30t1:c.1750-73T>C	NP_000578.2:n.1750-73T>C
XM_011514122.1:c.1750-73T>C	XP_011512424.1:n.1750-73T>C
NM_000587.3:c.1750-73T>C	NP_000578.2:n.1750-73T>C
NM_000587.4:c.1750-73T>C MANE Select	NP_000578.2:n.1750-73T>C