Canonical Allele Identifier: CA502676962

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 499004
• ClinVar RCV Id: RCV000596289 ; RCV003653221
• dbSNP Id: rs1408054045
• gnomAD v3: 18-2722637-T-C
• gnomAD v4: 18-2722637-T-C
• MyVariant Identifiers: chr18:g.2722635T>C (hg19) ; chr18:g.2722637T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2722637T>C , CM000680.2:g.2722637T>C	GRCh38
NC_000018.9:g.2722635T>C , CM000680.1:g.2722635T>C	GRCh37
NC_000018.8:g.2712635T>C	NCBI36
NG_031972.1:g.71750T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583441.2:n.263T>C
ENST00000688342.1:c.2577T>C	ENSP00000508422.1:p.Thr859=
ENST00000690757.1:n.34T>C
ENST00000693213.1:n.1855T>C
ENST00000320876.11:c.2577T>C MANE Select	ENSP00000326603.7:p.Thr859=
ENST00000320876.10:c.2577T>C	ENSP00000326603.6:p.Thr859=
ENST00000577880.5:c.990T>C	ENSP00000463049.1:p.Thr330=
ENST00000584897.5:c.424-2262T>C
NM_015295.2:c.2577T>C	NP_056110.2:p.Thr859=
XM_011525642.1:c.2577T>C	XP_011523944.1:p.Thr859=
XM_011525643.1:c.2577T>C	XP_011523945.1:p.Thr859=
XM_011525644.1:c.2193T>C	XP_011523946.1:p.Thr731=
XM_011525645.1:c.2013T>C	XP_011523947.1:p.Thr671=
XM_011525646.1:c.2577T>C	XP_011523948.1:p.Thr859=
XM_011525647.1:c.2577T>C	XP_011523949.1:p.Thr859=
XR_430039.1:n.2766T>C
XR_935054.1:n.2766T>C
XR_935055.1:n.2766T>C
XM_011525643.2:c.2577T>C	XP_011523945.1:p.Thr859=
XM_017025684.1:c.2013T>C	XP_016881173.1:p.Thr671=
XR_001753172.1:n.2766T>C
XR_001753173.1:n.2766T>C
XR_001753174.1:n.2766T>C
XR_001753175.1:n.2766T>C
XR_001753176.1:n.2766T>C
XR_001753177.1:n.2766T>C
XR_001753178.1:n.2766T>C
XR_001753179.1:n.2766T>C
XR_935055.2:n.2766T>C
NM_015295.3:c.2577T>C MANE Select	NP_056110.2:p.Thr859=