Canonical Allele Identifier: CA2673688321

Gene: C7

Linked Data

• gnomAD v4: 5-40964670-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964670T>C , CM000667.2:g.40964670T>C	GRCh38
NC_000005.9:g.40964772T>C , CM000667.1:g.40964772T>C	GRCh37
NC_000005.8:g.41000529T>C	NCBI36
NG_011692.1:g.60174T>C , LRG_30:g.60174T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486779.2:n.471T>C
ENST00000696333.1:c.1750-71T>C	ENSP00000512566.1:n.1750-71T>C
ENST00000696441.1:c.1750-71T>C	ENSP00000512631.1:n.1750-71T>C
ENST00000706664.1:n.1864-71T>C
ENST00000706666.1:n.1826-71T>C
ENST00000706667.1:n.2640-71T>C
ENST00000706668.1:n.2478-71T>C
ENST00000313164.10:c.1750-71T>C MANE Select	ENSP00000322061.9:n.1750-71T>C
ENST00000313164.9:c.1750-71T>C	ENSP00000322061.9:n.1750-71T>C
ENST00000486779.1:n.192T>C
NM_000587.2:c.1750-71T>C , LRG_30t1:c.1750-71T>C	NP_000578.2:n.1750-71T>C
XM_011514122.1:c.1750-71T>C	XP_011512424.1:n.1750-71T>C
NM_000587.3:c.1750-71T>C	NP_000578.2:n.1750-71T>C
NM_000587.4:c.1750-71T>C MANE Select	NP_000578.2:n.1750-71T>C