Canonical Allele Identifier: CA10636438

Gene: MVK

Linked Data

• ClinVar Variation Id: 307104
• ClinVar RCV Id: RCV000295719 ; RCV000349344
• dbSNP Id: rs886048935
• gnomAD v4: 12-109596885-G-A
• MyVariant Identifiers: chr12:g.110034690G>A (hg19) ; chr12:g.109596885G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596885G>A , CM000674.2:g.109596885G>A	GRCh38
NC_000012.11:g.110034690G>A , CM000674.1:g.110034690G>A	GRCh37
NC_000012.10:g.108519073G>A	NCBI36
NG_007702.1:g.28191G>A , LRG_156:g.28191G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.*308G>A	ENSP00000439134.1:n.*308G>A
ENST00000546277.6:c.*308G>A	ENSP00000438153.2:n.*308G>A
ENST00000636529.2:n.1138G>A
ENST00000697195.1:c.*1263G>A	ENSP00000513181.1:n.*1263G>A
ENST00000697196.1:c.*672G>A	ENSP00000513182.1:n.*672G>A
ENST00000697197.1:n.3528G>A
ENST00000697198.1:n.1883G>A
ENST00000228510.8:c.*308G>A MANE Select	ENSP00000228510.3:n.*308G>A
ENST00000636529.1:c.1124G>A
ENST00000636996.1:c.1347G>A
ENST00000228510.7:c.*308G>A	ENSP00000228510.3:n.*308G>A
ENST00000392727.7:c.*308G>A	ENSP00000376487.3:n.*308G>A
ENST00000447878.6:c.*946G>A	ENSP00000415555.2:n.*946G>A
ENST00000539575.4:c.*308G>A	ENSP00000443551.2:n.*308G>A
ENST00000540353.1:n.3732G>A
ENST00000625889.2:c.*308G>A	ENSP00000486846.1:n.*308G>A
ENST00000629016.2:c.*946G>A	ENSP00000486804.1:n.*946G>A
NM_000431.3:c.*308G>A	NP_000422.1:n.*308G>A
NM_001114185.2:c.*308G>A	NP_001107657.1:n.*308G>A
NM_001301182.1:c.*308G>A	NP_001288111.1:n.*308G>A
XM_011538372.1:c.*308G>A	XP_011536674.1:n.*308G>A
XM_017019313.2:c.*308G>A	XP_016874802.1:n.*308G>A
XM_017019314.1:c.*308G>A	XP_016874803.1:n.*308G>A
NM_000431.4:c.*308G>A MANE Select	NP_000422.1:n.*308G>A
NM_001114185.3:c.*308G>A	NP_001107657.1:n.*308G>A
NM_001301182.2:c.*308G>A	NP_001288111.1:n.*308G>A