Canonical Allele Identifier: CA3250089

Gene: C7

Linked Data

• dbSNP Id: rs746087336
• ExAC: 5:40964857 G / A
• gnomAD v2: 5-40964857-G-A
• gnomAD v3: 5-40964755-G-A
• gnomAD v4: 5-40964755-G-A
• MyVariant Identifiers: chr5:g.40964857G>A (hg19) ; chr5:g.40964755G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964755G>A , CM000667.2:g.40964755G>A	GRCh38
NC_000005.9:g.40964857G>A , CM000667.1:g.40964857G>A	GRCh37
NC_000005.8:g.41000614G>A	NCBI36
NG_011692.1:g.60259G>A , LRG_30:g.60259G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486779.2:n.556G>A
ENST00000696333.1:c.1764G>A	ENSP00000512566.1:p.Met588Ile
ENST00000696441.1:c.1764G>A	ENSP00000512631.1:p.Met588Ile
ENST00000706664.1:n.1878G>A
ENST00000706666.1:n.1840G>A
ENST00000706667.1:n.2654G>A
ENST00000706668.1:n.2492G>A
ENST00000313164.10:c.1764G>A MANE Select	ENSP00000322061.9:p.Met588Ile
ENST00000313164.9:c.1764G>A	ENSP00000322061.9:p.Met588Ile
ENST00000486779.1:n.277G>A
NM_000587.2:c.1764G>A , LRG_30t1:c.1764G>A	NP_000578.2:p.Met588Ile
XM_011514122.1:c.1764G>A	XP_011512424.1:p.Met588Ile
NM_000587.3:c.1764G>A	NP_000578.2:p.Met588Ile
NM_000587.4:c.1764G>A MANE Select	NP_000578.2:p.Met588Ile