Canonical Allele Identifier: CA6779425

Gene: MVK

Linked Data

• ClinVar Variation Id: 811328
• ClinVar RCV Id: RCV001001117 ; RCV001225844 ; RCV002264139
• dbSNP Id: rs374686559
• ExAC: 12:110032921 G / A
• gnomAD v2: 12-110032921-G-A
• gnomAD v3: 12-109595116-G-A
• gnomAD v4: 12-109595116-G-A
• COSMIC: COSM4038577
• MyVariant Identifiers: chr12:g.110032921G>A (hg19) ; chr12:g.109595116G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595116G>A , CM000674.2:g.109595116G>A	GRCh38
NC_000012.11:g.110032921G>A , CM000674.1:g.110032921G>A	GRCh37
NC_000012.10:g.108517304G>A	NCBI36
NG_007702.1:g.26422G>A , LRG_156:g.26422G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.131G>A	ENSP00000439134.1:p.Arg44His
ENST00000546277.6:c.974G>A	ENSP00000438153.2:p.Arg325His
ENST00000636529.2:n.613G>A
ENST00000697195.1:c.*738G>A	ENSP00000513181.1:n.*738G>A
ENST00000697196.1:c.*147G>A	ENSP00000513182.1:n.*147G>A
ENST00000697197.1:n.3003G>A
ENST00000697198.1:n.1358G>A
ENST00000228510.8:c.974G>A MANE Select	ENSP00000228510.3:p.Arg325His
ENST00000636529.1:c.599G>A
ENST00000636996.1:c.822G>A
ENST00000228510.7:c.974G>A	ENSP00000228510.3:p.Arg325His
ENST00000392727.7:c.818G>A	ENSP00000376487.3:p.Arg273His
ENST00000447878.6:c.*421G>A	ENSP00000415555.2:n.*421G>A
ENST00000537237.5:c.*647G>A	ENSP00000445382.1:n.*647G>A
ENST00000539575.4:c.974G>A	ENSP00000443551.2:p.Arg325His
ENST00000539696.5:c.131G>A	ENSP00000439134.1:p.Arg44His
ENST00000540353.1:n.3207G>A
ENST00000625889.2:c.818G>A	ENSP00000486846.1:p.Arg273His
ENST00000629016.2:c.*421G>A	ENSP00000486804.1:n.*421G>A
NM_000431.3:c.974G>A	NP_000422.1:p.Arg325His
NM_001114185.2:c.974G>A	NP_001107657.1:p.Arg325His
NM_001301182.1:c.818G>A	NP_001288111.1:p.Arg273His
XM_011538372.1:c.974G>A	XP_011536674.1:p.Arg325His
XM_017019313.2:c.818G>A	XP_016874802.1:p.Arg273His
XM_017019314.1:c.974G>A	XP_016874803.1:p.Arg325His
NM_000431.4:c.974G>A MANE Select	NP_000422.1:p.Arg325His
NM_001114185.3:c.974G>A	NP_001107657.1:p.Arg325His
NM_001301182.2:c.818G>A	NP_001288111.1:p.Arg273His