Canonical Allele Identifier: CA8871575

Gene: SMCHD1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2769782C>T , CM000680.2:g.2769782C>T	GRCh38
NC_000018.9:g.2769780C>T , CM000680.1:g.2769780C>T	GRCh37
NC_000018.8:g.2759780C>T	NCBI36
NG_031972.1:g.118895C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583344.2:n.713C>T
ENST00000685656.1:n.1296C>T
ENST00000686763.1:c.*367C>T	ENSP00000510263.1:n.*367C>T
ENST00000686864.1:c.1570C>T
ENST00000688342.1:c.4676C>T	ENSP00000508422.1:p.Thr1559Ile
ENST00000688708.1:n.3537C>T
ENST00000688964.1:n.1508C>T
ENST00000689034.1:n.2755C>T
ENST00000693213.1:n.4006C>T
ENST00000693522.1:n.1349C>T
ENST00000320876.11:c.4808C>T MANE Select	ENSP00000326603.7:p.Thr1603Ile
ENST00000645355.1:c.853C>T
ENST00000320876.10:c.4808C>T	ENSP00000326603.6:p.Thr1603Ile
ENST00000577880.5:c.3221C>T	ENSP00000463049.1:p.Thr1074Ile
ENST00000583344.1:n.713C>T
ENST00000584897.5:c.2628C>T
NM_015295.2:c.4808C>T	NP_056110.2:p.Thr1603Ile
XM_011525642.1:c.4808C>T	XP_011523944.1:p.Thr1603Ile
XM_011525643.1:c.4808C>T	XP_011523945.1:p.Thr1603Ile
XM_011525644.1:c.4424C>T	XP_011523946.1:p.Thr1475Ile
XM_011525645.1:c.4244C>T	XP_011523947.1:p.Thr1415Ile
XR_430039.1:n.4997C>T
XR_935054.1:n.4997C>T
XR_935055.1:n.4997C>T
XM_011525643.2:c.4808C>T	XP_011523945.1:p.Thr1603Ile
XM_017025684.1:c.4244C>T	XP_016881173.1:p.Thr1415Ile
XR_001753172.1:n.4997C>T
XR_001753173.1:n.4997C>T
XR_001753174.1:n.4997C>T
XR_001753175.1:n.4997C>T
XR_001753176.1:n.4997C>T
XR_001753177.1:n.4909C>T
XR_001753178.1:n.4917C>T
XR_001753179.1:n.4829C>T
XR_935055.2:n.4997C>T
NM_015295.3:c.4808C>T MANE Select	NP_056110.2:p.Thr1603Ile