Canonical Allele Identifier: CA2578298871

Gene: C7

Linked Data

• gnomAD v4: 5-40964919-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964919G>T , CM000667.2:g.40964919G>T	GRCh38
NC_000005.9:g.40965021G>T , CM000667.1:g.40965021G>T	GRCh37
NC_000005.8:g.41000778G>T	NCBI36
NG_011692.1:g.60423G>T , LRG_30:g.60423G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486779.2:n.674+46G>T
ENST00000696333.1:c.1882+46G>T	ENSP00000512566.1:n.1882+46G>T
ENST00000696441.1:c.1882+46G>T	ENSP00000512631.1:n.1882+46G>T
ENST00000706664.1:n.1996+46G>T
ENST00000706666.1:n.1958+46G>T
ENST00000706667.1:n.2772+46G>T
ENST00000706668.1:n.2610+46G>T
ENST00000313164.10:c.1882+46G>T MANE Select	ENSP00000322061.9:n.1882+46G>T
ENST00000313164.9:c.1882+46G>T	ENSP00000322061.9:n.1882+46G>T
ENST00000486779.1:n.395+46G>T
NM_000587.2:c.1882+46G>T , LRG_30t1:c.1882+46G>T	NP_000578.2:n.1882+46G>T
XM_011514122.1:c.1882+46G>T	XP_011512424.1:n.1882+46G>T
NM_000587.3:c.1882+46G>T	NP_000578.2:n.1882+46G>T
NM_000587.4:c.1882+46G>T MANE Select	NP_000578.2:n.1882+46G>T