Canonical Allele Identifier: CA8871151

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 286021
• ClinVar RCV Id: RCV000321018 ; RCV000850315 ; RCV000725767 ; RCV001859637
• dbSNP Id: rs113434340
• ExAC: 18:2732423 T / C
• gnomAD v2: 18-2732423-T-C
• gnomAD v3: 18-2732425-T-C
• gnomAD v4: 18-2732425-T-C
• MyVariant Identifiers: chr18:g.2732423T>C (hg19) ; chr18:g.2732425T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2732425T>C , CM000680.2:g.2732425T>C	GRCh38
NC_000018.9:g.2732423T>C , CM000680.1:g.2732423T>C	GRCh37
NC_000018.8:g.2722423T>C	NCBI36
NG_031972.1:g.81538T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583441.2:n.895T>C
ENST00000686763.1:c.14T>C	ENSP00000510263.1:p.Ile5Thr
ENST00000688342.1:c.3209T>C	ENSP00000508422.1:p.Ile1070Thr
ENST00000690757.1:n.666T>C
ENST00000693213.1:n.2487T>C
ENST00000320876.11:c.3209T>C MANE Select	ENSP00000326603.7:p.Ile1070Thr
ENST00000320876.10:c.3209T>C	ENSP00000326603.6:p.Ile1070Thr
ENST00000577880.5:c.1622T>C	ENSP00000463049.1:p.Ile541Thr
ENST00000581631.1:n.479T>C
ENST00000584897.5:c.1029T>C
NM_015295.2:c.3209T>C	NP_056110.2:p.Ile1070Thr
XM_011525642.1:c.3209T>C	XP_011523944.1:p.Ile1070Thr
XM_011525643.1:c.3209T>C	XP_011523945.1:p.Ile1070Thr
XM_011525644.1:c.2825T>C	XP_011523946.1:p.Ile942Thr
XM_011525645.1:c.2645T>C	XP_011523947.1:p.Ile882Thr
XM_011525646.1:c.3209T>C	XP_011523948.1:p.Ile1070Thr
XM_011525647.1:c.3209T>C	XP_011523949.1:p.Ile1070Thr
XR_430039.1:n.3398T>C
XR_935054.1:n.3398T>C
XR_935055.1:n.3398T>C
XM_011525643.2:c.3209T>C	XP_011523945.1:p.Ile1070Thr
XM_017025684.1:c.2645T>C	XP_016881173.1:p.Ile882Thr
XR_001753172.1:n.3398T>C
XR_001753173.1:n.3398T>C
XR_001753174.1:n.3398T>C
XR_001753175.1:n.3398T>C
XR_001753176.1:n.3398T>C
XR_001753177.1:n.3398T>C
XR_001753178.1:n.3398T>C
XR_001753179.1:n.3398T>C
XR_935055.2:n.3398T>C
NM_015295.3:c.3209T>C MANE Select	NP_056110.2:p.Ile1070Thr