Canonical Allele Identifier: CA359590743

Gene: C7

Linked Data

• dbSNP Id: rs1473096851
• gnomAD v2: 5-40964864-G-C
• gnomAD v4: 5-40964762-G-C
• MyVariant Identifiers: chr5:g.40964864G>C (hg19) ; chr5:g.40964762G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964762G>C , CM000667.2:g.40964762G>C	GRCh38
NC_000005.9:g.40964864G>C , CM000667.1:g.40964864G>C	GRCh37
NC_000005.8:g.41000621G>C	NCBI36
NG_011692.1:g.60266G>C , LRG_30:g.60266G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000486779.2:n.563G>C
ENST00000696333.1:c.1771G>C	ENSP00000512566.1:p.Val591Leu
ENST00000696441.1:c.1771G>C	ENSP00000512631.1:p.Val591Leu
ENST00000706664.1:n.1885G>C
ENST00000706666.1:n.1847G>C
ENST00000706667.1:n.2661G>C
ENST00000706668.1:n.2499G>C
ENST00000313164.10:c.1771G>C MANE Select	ENSP00000322061.9:p.Val591Leu
ENST00000313164.9:c.1771G>C	ENSP00000322061.9:p.Val591Leu
ENST00000486779.1:n.284G>C
NM_000587.2:c.1771G>C , LRG_30t1:c.1771G>C	NP_000578.2:p.Val591Leu
XM_011514122.1:c.1771G>C	XP_011512424.1:p.Val591Leu
NM_000587.3:c.1771G>C	NP_000578.2:p.Val591Leu
NM_000587.4:c.1771G>C MANE Select	NP_000578.2:p.Val591Leu