Canonical Allele Identifier: CA8870673

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 287026
• ClinVar RCV Id: RCV000314794 ; RCV001225059 ; RCV003165749
• dbSNP Id: rs776944618
• ExAC: 18:2694690 G / A
• gnomAD v2: 18-2694690-G-A
• gnomAD v3: 18-2694692-G-A
• gnomAD v4: 18-2694692-G-A
• COSMIC: COSM4619091 ; COSM4619092
• MyVariant Identifiers: chr18:g.2694690G>A (hg19) ; chr18:g.2694692G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2694692G>A , CM000680.2:g.2694692G>A	GRCh38
NC_000018.9:g.2694690G>A , CM000680.1:g.2694690G>A	GRCh37
NC_000018.8:g.2684690G>A	NCBI36
NG_031972.1:g.43805G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1196G>A
ENST00000688342.1:c.1039G>A	ENSP00000508422.1:p.Ala347Thr
ENST00000693213.1:n.317G>A
ENST00000320876.11:c.1039G>A MANE Select	ENSP00000326603.7:p.Ala347Thr
ENST00000320876.10:c.1039G>A	ENSP00000326603.6:p.Ala347Thr
ENST00000581226.1:n.273G>A
NM_015295.2:c.1039G>A	NP_056110.2:p.Ala347Thr
XM_011525642.1:c.1039G>A	XP_011523944.1:p.Ala347Thr
XM_011525643.1:c.1039G>A	XP_011523945.1:p.Ala347Thr
XM_011525644.1:c.655G>A	XP_011523946.1:p.Ala219Thr
XM_011525645.1:c.475G>A	XP_011523947.1:p.Ala159Thr
XM_011525646.1:c.1039G>A	XP_011523948.1:p.Ala347Thr
XM_011525647.1:c.1039G>A	XP_011523949.1:p.Ala347Thr
XR_430039.1:n.1228G>A
XR_935054.1:n.1228G>A
XR_935055.1:n.1228G>A
XM_011525643.2:c.1039G>A	XP_011523945.1:p.Ala347Thr
XM_017025684.1:c.475G>A	XP_016881173.1:p.Ala159Thr
XR_001753172.1:n.1228G>A
XR_001753173.1:n.1228G>A
XR_001753174.1:n.1228G>A
XR_001753175.1:n.1228G>A
XR_001753176.1:n.1228G>A
XR_001753177.1:n.1228G>A
XR_001753178.1:n.1228G>A
XR_001753179.1:n.1228G>A
XR_935055.2:n.1228G>A
NM_015295.3:c.1039G>A MANE Select	NP_056110.2:p.Ala347Thr