Canonical Allele Identifier: CA401697665

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 532805
• ClinVar RCV Id: RCV000639707
• dbSNP Id: rs886044369
• MyVariant Identifiers: chr18:g.2763788G>T (hg19) ; chr18:g.2763790G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2763790G>T , CM000680.2:g.2763790G>T	GRCh38
NC_000018.9:g.2763788G>T , CM000680.1:g.2763788G>T	GRCh37
NC_000018.8:g.2753788G>T	NCBI36
NG_031972.1:g.112903G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583344.2:n.624+1G>T
ENST00000685656.1:n.1207+1G>T
ENST00000686763.1:c.*278+1G>T	ENSP00000510263.1:n.*278+1G>T
ENST00000686864.1:c.1481+1G>T
ENST00000688342.1:c.4587+1G>T	ENSP00000508422.1:n.4587+1G>T
ENST00000688708.1:n.3375+1G>T
ENST00000688964.1:n.1419+1G>T
ENST00000689034.1:n.2666+1G>T
ENST00000693213.1:n.3917+1G>T
ENST00000693522.1:n.1260+1G>T
ENST00000320876.11:c.4719+1G>T MANE Select	ENSP00000326603.7:n.4719+1G>T
ENST00000645355.1:c.632+1G>T
ENST00000320876.10:c.4719+1G>T	ENSP00000326603.6:n.4719+1G>T
ENST00000577880.5:c.3132+1G>T	ENSP00000463049.1:n.3132+1G>T
ENST00000583344.1:n.624+1G>T
ENST00000584897.5:c.2539+1G>T
NM_015295.2:c.4719+1G>T	NP_056110.2:n.4719+1G>T
XM_011525642.1:c.4719+1G>T	XP_011523944.1:n.4719+1G>T
XM_011525643.1:c.4719+1G>T	XP_011523945.1:n.4719+1G>T
XM_011525644.1:c.4335+1G>T	XP_011523946.1:n.4335+1G>T
XM_011525645.1:c.4155+1G>T	XP_011523947.1:n.4155+1G>T
XM_011525646.1:c.4719+1G>T	XP_011523948.1:n.4719+1G>T
XR_430039.1:n.4908+1G>T
XR_935054.1:n.4908+1G>T
XR_935055.1:n.4908+1G>T
XM_011525643.2:c.4719+1G>T	XP_011523945.1:n.4719+1G>T
XM_017025684.1:c.4155+1G>T	XP_016881173.1:n.4155+1G>T
XR_001753172.1:n.4908+1G>T
XR_001753173.1:n.4908+1G>T
XR_001753174.1:n.4908+1G>T
XR_001753175.1:n.4908+1G>T
XR_001753176.1:n.4908+1G>T
XR_001753177.1:n.4820+1G>T
XR_001753178.1:n.4828+1G>T
XR_001753179.1:n.4740+1G>T
XR_935055.2:n.4908+1G>T
NM_015295.3:c.4719+1G>T MANE Select	NP_056110.2:n.4719+1G>T