Canonical Allele Identifier: CA1075384019

Gene: C7

Linked Data

• gnomAD v3: 5-40979659-C-T
• gnomAD v4: 5-40979659-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40979659C>T , CM000667.2:g.40979659C>T	GRCh38
NC_000005.9:g.40979761C>T , CM000667.1:g.40979761C>T	GRCh37
NC_000005.8:g.41015518C>T	NCBI36
NG_011692.1:g.75163C>T , LRG_30:g.75163C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696333.1:c.2166-66C>T	ENSP00000512566.1:n.2166-66C>T
ENST00000696441.1:c.2166-66C>T	ENSP00000512631.1:n.2166-66C>T
ENST00000696442.1:n.100-66C>T
ENST00000706664.1:n.2280-66C>T
ENST00000706666.1:n.2241+2819C>T
ENST00000706667.1:n.3056-66C>T
ENST00000706668.1:n.2894-66C>T
ENST00000313164.10:c.2166-66C>T MANE Select	ENSP00000322061.9:n.2166-66C>T
ENST00000313164.9:c.2166-66C>T	ENSP00000322061.9:n.2166-66C>T
ENST00000464864.1:n.179-66C>T
ENST00000494960.5:n.166-66C>T
NM_000587.2:c.2166-66C>T , LRG_30t1:c.2166-66C>T	NP_000578.2:n.2166-66C>T
XM_011514122.1:c.2166-66C>T	XP_011512424.1:n.2166-66C>T
NM_000587.3:c.2166-66C>T	NP_000578.2:n.2166-66C>T
NM_000587.4:c.2166-66C>T MANE Select	NP_000578.2:n.2166-66C>T