Canonical Allele Identifier: CA10604139

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 282294
• ClinVar RCV Id: RCV000308073 ; RCV002059103
• dbSNP Id: rs886042374
• gnomAD v4: 18-2796486-T-A
• MyVariant Identifiers: chr18:g.2796484T>A (hg19) ; chr18:g.2796486T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2796486T>A , CM000680.2:g.2796486T>A	GRCh38
NC_000018.9:g.2796484T>A , CM000680.1:g.2796484T>A	GRCh37
NC_000018.8:g.2786484T>A	NCBI36
NG_031972.1:g.145599T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685656.1:n.2265T>A
ENST00000686763.1:c.*1517T>A	ENSP00000510263.1:n.*1517T>A
ENST00000686864.1:c.2649T>A
ENST00000688342.1:c.5826T>A	ENSP00000508422.1:p.Pro1942=
ENST00000688708.1:n.4687T>A
ENST00000688964.1:n.2467T>A
ENST00000689034.1:n.3905T>A
ENST00000689800.1:n.2075T>A
ENST00000320876.11:c.5958T>A MANE Select	ENSP00000326603.7:p.Pro1986=
ENST00000642953.1:c.860T>A
ENST00000645355.1:c.2003T>A
ENST00000320876.10:c.5958T>A	ENSP00000326603.6:p.Pro1986=
ENST00000577880.5:c.4514T>A	ENSP00000463049.1:n.4514T>A
ENST00000583800.1:c.89T>A
ENST00000584897.5:c.3707T>A
NM_015295.2:c.5958T>A	NP_056110.2:p.Pro1986=
XM_011525642.1:c.5958T>A	XP_011523944.1:p.Pro1986=
XM_011525643.1:c.5958T>A	XP_011523945.1:p.Pro1986=
XM_011525644.1:c.5574T>A	XP_011523946.1:p.Pro1858=
XM_011525645.1:c.5394T>A	XP_011523947.1:p.Pro1798=
XR_430039.1:n.6076T>A
XM_011525643.2:c.5958T>A	XP_011523945.1:p.Pro1986=
XM_017025684.1:c.5394T>A	XP_016881173.1:p.Pro1798=
XR_001753172.1:n.6147T>A
XR_001753173.1:n.6147T>A
XR_001753174.1:n.6076T>A
XR_001753175.1:n.6076T>A
XR_001753176.1:n.5956T>A
XR_001753177.1:n.6059T>A
XR_001753178.1:n.5996T>A
NM_015295.3:c.5958T>A MANE Select	NP_056110.2:p.Pro1986=