Canonical Allele Identifier: CA10605226

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 285740
• ClinVar RCV Id: RCV000405504 ; RCV003650568
• dbSNP Id: rs747331582
• MyVariant Identifiers: chr18:g.2738499A>G (hg19) ; chr18:g.2738501A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2738501A>G , CM000680.2:g.2738501A>G	GRCh38
NC_000018.9:g.2738499A>G , CM000680.1:g.2738499A>G	GRCh37
NC_000018.8:g.2728499A>G	NCBI36
NG_031972.1:g.87614A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583441.2:n.1067A>G
ENST00000686763.1:c.186A>G	ENSP00000510263.1:p.Ser62=
ENST00000686864.1:c.143A>G
ENST00000688342.1:c.3381A>G	ENSP00000508422.1:p.Ser1127=
ENST00000688708.1:n.2037A>G
ENST00000690757.1:n.838A>G
ENST00000693213.1:n.2659A>G
ENST00000320876.11:c.3381A>G MANE Select	ENSP00000326603.7:p.Ser1127=
ENST00000320876.10:c.3381A>G	ENSP00000326603.6:p.Ser1127=
ENST00000577880.5:c.1794A>G	ENSP00000463049.1:p.Ser598=
ENST00000581631.1:n.651A>G
ENST00000584897.5:c.1201A>G
NM_015295.2:c.3381A>G	NP_056110.2:p.Ser1127=
XM_011525642.1:c.3381A>G	XP_011523944.1:p.Ser1127=
XM_011525643.1:c.3381A>G	XP_011523945.1:p.Ser1127=
XM_011525644.1:c.2997A>G	XP_011523946.1:p.Ser999=
XM_011525645.1:c.2817A>G	XP_011523947.1:p.Ser939=
XM_011525646.1:c.3381A>G	XP_011523948.1:p.Ser1127=
XM_011525647.1:c.3381A>G	XP_011523949.1:p.Ser1127=
XR_430039.1:n.3570A>G
XR_935054.1:n.3570A>G
XR_935055.1:n.3570A>G
XM_011525643.2:c.3381A>G	XP_011523945.1:p.Ser1127=
XM_017025684.1:c.2817A>G	XP_016881173.1:p.Ser939=
XR_001753172.1:n.3570A>G
XR_001753173.1:n.3570A>G
XR_001753174.1:n.3570A>G
XR_001753175.1:n.3570A>G
XR_001753176.1:n.3570A>G
XR_001753177.1:n.3570A>G
XR_001753178.1:n.3570A>G
XR_001753179.1:n.3570A>G
XR_935055.2:n.3570A>G
NM_015295.3:c.3381A>G MANE Select	NP_056110.2:p.Ser1127=