Canonical Allele Identifier: CA6779411

Gene: MVK

Linked Data

• ClinVar Variation Id: 2933845
• ClinVar RCV Id: RCV003793403
• dbSNP Id: rs745941736
• ExAC: 12:110032814 A / G
• gnomAD v2: 12-110032814-A-G
• gnomAD v3: 12-109595009-A-G
• gnomAD v4: 12-109595009-A-G
• MyVariant Identifiers: chr12:g.110032814A>G (hg19) ; chr12:g.109595009A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595009A>G , CM000674.2:g.109595009A>G	GRCh38
NC_000012.11:g.110032814A>G , CM000674.1:g.110032814A>G	GRCh37
NC_000012.10:g.108517197A>G	NCBI36
NG_007702.1:g.26315A>G , LRG_156:g.26315A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.43-19A>G	ENSP00000439134.1:n.43-19A>G
ENST00000546277.6:c.886-19A>G	ENSP00000438153.2:n.886-19A>G
ENST00000636529.2:n.525-19A>G
ENST00000697195.1:c.*650-19A>G	ENSP00000513181.1:n.*650-19A>G
ENST00000697196.1:c.*59-19A>G	ENSP00000513182.1:n.*59-19A>G
ENST00000697197.1:n.2915-19A>G
ENST00000697198.1:n.1251A>G
ENST00000228510.8:c.886-19A>G MANE Select	ENSP00000228510.3:n.886-19A>G
ENST00000636529.1:c.511-19A>G
ENST00000636996.1:c.734-19A>G
ENST00000228510.7:c.886-19A>G	ENSP00000228510.3:n.886-19A>G
ENST00000392727.7:c.730-19A>G	ENSP00000376487.3:n.730-19A>G
ENST00000447878.6:c.*333-19A>G	ENSP00000415555.2:n.*333-19A>G
ENST00000537237.5:c.*559-19A>G	ENSP00000445382.1:n.*559-19A>G
ENST00000539575.4:c.886-19A>G	ENSP00000443551.2:n.886-19A>G
ENST00000539696.5:c.43-19A>G	ENSP00000439134.1:n.43-19A>G
ENST00000540353.1:n.3119-19A>G
ENST00000625889.2:c.730-19A>G	ENSP00000486846.1:n.730-19A>G
ENST00000629016.2:c.*333-19A>G	ENSP00000486804.1:n.*333-19A>G
NM_000431.3:c.886-19A>G	NP_000422.1:n.886-19A>G
NM_001114185.2:c.886-19A>G	NP_001107657.1:n.886-19A>G
NM_001301182.1:c.730-19A>G	NP_001288111.1:n.730-19A>G
XM_011538372.1:c.886-19A>G	XP_011536674.1:n.886-19A>G
XM_017019313.2:c.730-19A>G	XP_016874802.1:n.730-19A>G
XM_017019314.1:c.886-19A>G	XP_016874803.1:n.886-19A>G
NM_000431.4:c.886-19A>G MANE Select	NP_000422.1:n.886-19A>G
NM_001114185.3:c.886-19A>G	NP_001107657.1:n.886-19A>G
NM_001301182.2:c.730-19A>G	NP_001288111.1:n.730-19A>G