Canonical Allele Identifier: CA6779446

Gene: MVK

Linked Data

• ClinVar Variation Id: 1159574
• ClinVar RCV Id: RCV001503377
• dbSNP Id: rs748756524
• ExAC: 12:110034227 G / A
• gnomAD v2: 12-110034227-G-A
• gnomAD v3: 12-109596422-G-A
• gnomAD v4: 12-109596422-G-A
• COSMIC: COSM3384019
• MyVariant Identifiers: chr12:g.110034227G>A (hg19) ; chr12:g.109596422G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596422G>A , CM000674.2:g.109596422G>A	GRCh38
NC_000012.11:g.110034227G>A , CM000674.1:g.110034227G>A	GRCh37
NC_000012.10:g.108518610G>A	NCBI36
NG_007702.1:g.27728G>A , LRG_156:g.27728G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.197-4G>A	ENSP00000439134.1:n.197-4G>A
ENST00000546277.6:c.1040-4G>A	ENSP00000438153.2:n.1040-4G>A
ENST00000636529.2:n.679-4G>A
ENST00000697195.1:c.*804-4G>A	ENSP00000513181.1:n.*804-4G>A
ENST00000697196.1:c.*213-4G>A	ENSP00000513182.1:n.*213-4G>A
ENST00000697197.1:n.3069-4G>A
ENST00000697198.1:n.1424-4G>A
ENST00000228510.8:c.1040-4G>A MANE Select	ENSP00000228510.3:n.1040-4G>A
ENST00000636529.1:c.665-4G>A
ENST00000636996.1:c.888-4G>A
ENST00000228510.7:c.1040-4G>A	ENSP00000228510.3:n.1040-4G>A
ENST00000392727.7:c.884-4G>A	ENSP00000376487.3:n.884-4G>A
ENST00000447878.6:c.*487-4G>A	ENSP00000415555.2:n.*487-4G>A
ENST00000537237.5:c.*713-4G>A	ENSP00000445382.1:n.*713-4G>A
ENST00000539575.4:c.1040-4G>A	ENSP00000443551.2:n.1040-4G>A
ENST00000539696.5:c.197-4G>A	ENSP00000439134.1:n.197-4G>A
ENST00000540353.1:n.3273-4G>A
ENST00000625889.2:c.884-4G>A	ENSP00000486846.1:n.884-4G>A
ENST00000629016.2:c.*487-4G>A	ENSP00000486804.1:n.*487-4G>A
NM_000431.3:c.1040-4G>A	NP_000422.1:n.1040-4G>A
NM_001114185.2:c.1040-4G>A	NP_001107657.1:n.1040-4G>A
NM_001301182.1:c.884-4G>A	NP_001288111.1:n.884-4G>A
XM_011538372.1:c.1040-4G>A	XP_011536674.1:n.1040-4G>A
XM_017019313.2:c.884-4G>A	XP_016874802.1:n.884-4G>A
XM_017019314.1:c.1040-4G>A	XP_016874803.1:n.1040-4G>A
NM_000431.4:c.1040-4G>A MANE Select	NP_000422.1:n.1040-4G>A
NM_001114185.3:c.1040-4G>A	NP_001107657.1:n.1040-4G>A
NM_001301182.2:c.884-4G>A	NP_001288111.1:n.884-4G>A