Canonical Allele Identifier: CA2673689367

Gene: C7

Linked Data

• gnomAD v4: 5-40979646-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40979646G>C , CM000667.2:g.40979646G>C	GRCh38
NC_000005.9:g.40979748G>C , CM000667.1:g.40979748G>C	GRCh37
NC_000005.8:g.41015505G>C	NCBI36
NG_011692.1:g.75150G>C , LRG_30:g.75150G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696333.1:c.2166-79G>C	ENSP00000512566.1:n.2166-79G>C
ENST00000696441.1:c.2166-79G>C	ENSP00000512631.1:n.2166-79G>C
ENST00000696442.1:n.100-79G>C
ENST00000706664.1:n.2280-79G>C
ENST00000706666.1:n.2241+2806G>C
ENST00000706667.1:n.3056-79G>C
ENST00000706668.1:n.2894-79G>C
ENST00000313164.10:c.2166-79G>C MANE Select	ENSP00000322061.9:n.2166-79G>C
ENST00000313164.9:c.2166-79G>C	ENSP00000322061.9:n.2166-79G>C
ENST00000464864.1:n.179-79G>C
ENST00000494960.5:n.166-79G>C
NM_000587.2:c.2166-79G>C , LRG_30t1:c.2166-79G>C	NP_000578.2:n.2166-79G>C
XM_011514122.1:c.2166-79G>C	XP_011512424.1:n.2166-79G>C
NM_000587.3:c.2166-79G>C	NP_000578.2:n.2166-79G>C
NM_000587.4:c.2166-79G>C MANE Select	NP_000578.2:n.2166-79G>C