Canonical Allele Identifier: CA359590705

Gene: C7

Linked Data

• dbSNP Id: rs1159263237
• gnomAD v3: 5-40964753-A-G
• gnomAD v4: 5-40964753-A-G
• MyVariant Identifiers: chr5:g.40964855A>G (hg19) ; chr5:g.40964753A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964753A>G , CM000667.2:g.40964753A>G	GRCh38
NC_000005.9:g.40964855A>G , CM000667.1:g.40964855A>G	GRCh37
NC_000005.8:g.41000612A>G	NCBI36
NG_011692.1:g.60257A>G , LRG_30:g.60257A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486779.2:n.554A>G
ENST00000696333.1:c.1762A>G	ENSP00000512566.1:p.Met588Val
ENST00000696441.1:c.1762A>G	ENSP00000512631.1:p.Met588Val
ENST00000706664.1:n.1876A>G
ENST00000706666.1:n.1838A>G
ENST00000706667.1:n.2652A>G
ENST00000706668.1:n.2490A>G
ENST00000313164.10:c.1762A>G MANE Select	ENSP00000322061.9:p.Met588Val
ENST00000313164.9:c.1762A>G	ENSP00000322061.9:p.Met588Val
ENST00000486779.1:n.275A>G
NM_000587.2:c.1762A>G , LRG_30t1:c.1762A>G	NP_000578.2:p.Met588Val
XM_011514122.1:c.1762A>G	XP_011512424.1:p.Met588Val
NM_000587.3:c.1762A>G	NP_000578.2:p.Met588Val
NM_000587.4:c.1762A>G MANE Select	NP_000578.2:p.Met588Val