Canonical Allele Identifier: CA8228757

Gene: MVD

Linked Data

• ClinVar Variation Id: 253039
• ClinVar RCV Id: RCV000239486
• dbSNP Id: rs761991070
• ExAC: 16:88721758 A / G
• gnomAD v2: 16-88721758-A-G
• gnomAD v3: 16-88655350-A-G
• gnomAD v4: 16-88655350-A-G
• MyVariant Identifiers: chr16:g.88721758A>G (hg19) ; chr16:g.88655350A>G (hg38)
• PubMed: PMID:21161278 ; PMID:26202976

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88655350A>G , CM000678.2:g.88655350A>G	GRCh38
NC_000016.9:g.88721758A>G , CM000678.1:g.88721758A>G	GRCh37
NC_000016.8:g.87249259A>G	NCBI36
NG_007291.1:g.700T>C , LRG_52:g.700T>C
NG_052674.1:g.12804T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301012.8:c.746T>C MANE Select	ENSP00000301012.3:p.Phe249Ser
ENST00000301012.7:c.746T>C	ENSP00000301012.3:p.Phe249Ser
ENST00000565149.5:n.1305T>C
ENST00000620002.4:c.231T>C	ENSP00000479264.1:p.Leu77=
NM_002461.2:c.746T>C	NP_002452.1:p.Phe249Ser
XM_011523086.1:c.848T>C	XP_011521388.1:p.Phe283Ser
XM_011523087.1:c.785T>C	XP_011521389.1:p.Phe262Ser
XM_011523088.1:c.683T>C	XP_011521390.1:p.Phe228Ser
XM_011523089.1:c.395T>C	XP_011521391.1:p.Phe132Ser
XM_011523086.2:c.848T>C	XP_011521388.1:p.Phe283Ser
XM_011523087.2:c.785T>C	XP_011521389.1:p.Phe262Ser
XM_011523088.2:c.683T>C	XP_011521390.1:p.Phe228Ser
XM_011523089.2:c.395T>C	XP_011521391.1:p.Phe132Ser
NM_002461.3:c.746T>C MANE Select	NP_002452.1:p.Phe249Ser