Canonical Allele Identifier: CA502673571

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 498055
• ClinVar RCV Id: RCV000595788 ; RCV001504141
• dbSNP Id: rs1172138387
• gnomAD v4: 18-2775811-T-C
• MyVariant Identifiers: chr18:g.2775809T>C (hg19) ; chr18:g.2775811T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2775811T>C , CM000680.2:g.2775811T>C	GRCh38
NC_000018.9:g.2775809T>C , CM000680.1:g.2775809T>C	GRCh37
NC_000018.8:g.2765809T>C	NCBI36
NG_031972.1:g.124924T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685656.1:n.1741T>C
ENST00000686763.1:c.*812T>C	ENSP00000510263.1:n.*812T>C
ENST00000686864.1:c.2015T>C
ENST00000688342.1:c.5121T>C	ENSP00000508422.1:p.Cys1707=
ENST00000688708.1:n.3982T>C
ENST00000688964.1:n.1876-1995T>C
ENST00000689034.1:n.3200T>C
ENST00000693213.1:n.4451T>C
ENST00000693522.1:n.1794T>C
ENST00000320876.11:c.5253T>C MANE Select	ENSP00000326603.7:p.Cys1751=
ENST00000642953.1:c.155T>C
ENST00000645355.1:c.1298T>C
ENST00000320876.10:c.5253T>C	ENSP00000326603.6:p.Cys1751=
ENST00000577880.5:c.3666T>C	ENSP00000463049.1:p.Cys1222=
ENST00000584897.5:c.3073T>C
NM_015295.2:c.5253T>C	NP_056110.2:p.Cys1751=
XM_011525642.1:c.5253T>C	XP_011523944.1:p.Cys1751=
XM_011525643.1:c.5253T>C	XP_011523945.1:p.Cys1751=
XM_011525644.1:c.4869T>C	XP_011523946.1:p.Cys1623=
XM_011525645.1:c.4689T>C	XP_011523947.1:p.Cys1563=
XR_430039.1:n.5442T>C
XR_935054.1:n.5365-1995T>C
XR_935055.1:n.5365-1995T>C
XM_011525643.2:c.5253T>C	XP_011523945.1:p.Cys1751=
XM_017025684.1:c.4689T>C	XP_016881173.1:p.Cys1563=
XR_001753172.1:n.5442T>C
XR_001753173.1:n.5442T>C
XR_001753174.1:n.5442T>C
XR_001753175.1:n.5442T>C
XR_001753176.1:n.5365-1995T>C
XR_001753177.1:n.5354T>C
XR_001753178.1:n.5362T>C
XR_935055.2:n.5365-1995T>C
NM_015295.3:c.5253T>C MANE Select	NP_056110.2:p.Cys1751=