Canonical Allele Identifier: CA401689493

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 446476
• ClinVar RCV Id: RCV000515687
• dbSNP Id: rs1204021010
• MyVariant Identifiers: chr18:g.2743804G>C (hg19) ; chr18:g.2743806G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2743806G>C , CM000680.2:g.2743806G>C	GRCh38
NC_000018.9:g.2743804G>C , CM000680.1:g.2743804G>C	GRCh37
NC_000018.8:g.2733804G>C	NCBI36
NG_031972.1:g.92919G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583441.2:n.1365G>C
ENST00000686763.1:c.484G>C	ENSP00000510263.1:p.Gly162Arg
ENST00000686864.1:c.441G>C
ENST00000688342.1:c.3679G>C	ENSP00000508422.1:p.Gly1227Arg
ENST00000688708.1:n.2335G>C
ENST00000690757.1:n.1136G>C
ENST00000693213.1:n.2957G>C
ENST00000320876.11:c.3679G>C MANE Select	ENSP00000326603.7:p.Gly1227Arg
ENST00000320876.10:c.3679G>C	ENSP00000326603.6:p.Gly1227Arg
ENST00000577880.5:c.2092G>C	ENSP00000463049.1:p.Gly698Arg
ENST00000584897.5:c.1499G>C
NM_015295.2:c.3679G>C	NP_056110.2:p.Gly1227Arg
XM_011525642.1:c.3679G>C	XP_011523944.1:p.Gly1227Arg
XM_011525643.1:c.3679G>C	XP_011523945.1:p.Gly1227Arg
XM_011525644.1:c.3295G>C	XP_011523946.1:p.Gly1099Arg
XM_011525645.1:c.3115G>C	XP_011523947.1:p.Gly1039Arg
XM_011525646.1:c.3679G>C	XP_011523948.1:p.Gly1227Arg
XM_011525647.1:c.3679G>C	XP_011523949.1:p.Gly1227Arg
XR_430039.1:n.3868G>C
XR_935054.1:n.3868G>C
XR_935055.1:n.3868G>C
XM_011525643.2:c.3679G>C	XP_011523945.1:p.Gly1227Arg
XM_017025684.1:c.3115G>C	XP_016881173.1:p.Gly1039Arg
XR_001753172.1:n.3868G>C
XR_001753173.1:n.3868G>C
XR_001753174.1:n.3868G>C
XR_001753175.1:n.3868G>C
XR_001753176.1:n.3868G>C
XR_001753177.1:n.3868G>C
XR_001753178.1:n.3868G>C
XR_001753179.1:n.3868G>C
XR_935055.2:n.3868G>C
NM_015295.3:c.3679G>C MANE Select	NP_056110.2:p.Gly1227Arg