Canonical Allele Identifier: CA6779443

Gene: MVK

Linked Data

• ClinVar Variation Id: 1144841
• ClinVar RCV Id: RCV001483493
• dbSNP Id: rs374344390
• ExAC: 12:110034221 C / T
• gnomAD v2: 12-110034221-C-T
• gnomAD v3: 12-109596416-C-T
• gnomAD v4: 12-109596416-C-T
• MyVariant Identifiers: chr12:g.110034221C>T (hg19) ; chr12:g.109596416C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596416C>T , CM000674.2:g.109596416C>T	GRCh38
NC_000012.11:g.110034221C>T , CM000674.1:g.110034221C>T	GRCh37
NC_000012.10:g.108518604C>T	NCBI36
NG_007702.1:g.27722C>T , LRG_156:g.27722C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.197-10C>T	ENSP00000439134.1:n.197-10C>T
ENST00000546277.6:c.1040-10C>T	ENSP00000438153.2:n.1040-10C>T
ENST00000636529.2:n.679-10C>T
ENST00000697195.1:c.*804-10C>T	ENSP00000513181.1:n.*804-10C>T
ENST00000697196.1:c.*213-10C>T	ENSP00000513182.1:n.*213-10C>T
ENST00000697197.1:n.3069-10C>T
ENST00000697198.1:n.1424-10C>T
ENST00000228510.8:c.1040-10C>T MANE Select	ENSP00000228510.3:n.1040-10C>T
ENST00000636529.1:c.665-10C>T
ENST00000636996.1:c.888-10C>T
ENST00000228510.7:c.1040-10C>T	ENSP00000228510.3:n.1040-10C>T
ENST00000392727.7:c.884-10C>T	ENSP00000376487.3:n.884-10C>T
ENST00000447878.6:c.*487-10C>T	ENSP00000415555.2:n.*487-10C>T
ENST00000537237.5:c.*713-10C>T	ENSP00000445382.1:n.*713-10C>T
ENST00000539575.4:c.1040-10C>T	ENSP00000443551.2:n.1040-10C>T
ENST00000539696.5:c.197-10C>T	ENSP00000439134.1:n.197-10C>T
ENST00000540353.1:n.3273-10C>T
ENST00000625889.2:c.884-10C>T	ENSP00000486846.1:n.884-10C>T
ENST00000629016.2:c.*487-10C>T	ENSP00000486804.1:n.*487-10C>T
NM_000431.3:c.1040-10C>T	NP_000422.1:n.1040-10C>T
NM_001114185.2:c.1040-10C>T	NP_001107657.1:n.1040-10C>T
NM_001301182.1:c.884-10C>T	NP_001288111.1:n.884-10C>T
XM_011538372.1:c.1040-10C>T	XP_011536674.1:n.1040-10C>T
XM_017019313.2:c.884-10C>T	XP_016874802.1:n.884-10C>T
XM_017019314.1:c.1040-10C>T	XP_016874803.1:n.1040-10C>T
NM_000431.4:c.1040-10C>T MANE Select	NP_000422.1:n.1040-10C>T
NM_001114185.3:c.1040-10C>T	NP_001107657.1:n.1040-10C>T
NM_001301182.2:c.884-10C>T	NP_001288111.1:n.884-10C>T