Canonical Allele Identifier: CA8870911

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 498203
• ClinVar RCV Id: RCV000596302 ; RCV001087067
• dbSNP Id: rs372945746
• ExAC: 18:2707809 G / A
• gnomAD v2: 18-2707809-G-A
• gnomAD v3: 18-2707811-G-A
• gnomAD v4: 18-2707811-G-A
• MyVariant Identifiers: chr18:g.2707809G>A (hg19) ; chr18:g.2707811G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2707811G>A , CM000680.2:g.2707811G>A	GRCh38
NC_000018.9:g.2707809G>A , CM000680.1:g.2707809G>A	GRCh37
NC_000018.8:g.2697809G>A	NCBI36
NG_031972.1:g.56924G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688342.1:c.2151G>A	ENSP00000508422.1:p.Ala717=
ENST00000693213.1:n.1429G>A
ENST00000320876.11:c.2151G>A MANE Select	ENSP00000326603.7:p.Ala717=
ENST00000320876.10:c.2151G>A	ENSP00000326603.6:p.Ala717=
ENST00000577880.5:c.564G>A	ENSP00000463049.1:p.Ala188=
ENST00000581711.1:n.207G>A
ENST00000584897.5:c.116G>A
NM_015295.2:c.2151G>A	NP_056110.2:p.Ala717=
XM_011525642.1:c.2151G>A	XP_011523944.1:p.Ala717=
XM_011525643.1:c.2151G>A	XP_011523945.1:p.Ala717=
XM_011525644.1:c.1767G>A	XP_011523946.1:p.Ala589=
XM_011525645.1:c.1587G>A	XP_011523947.1:p.Ala529=
XM_011525646.1:c.2151G>A	XP_011523948.1:p.Ala717=
XM_011525647.1:c.2151G>A	XP_011523949.1:p.Ala717=
XR_430039.1:n.2340G>A
XR_935054.1:n.2340G>A
XR_935055.1:n.2340G>A
XM_011525643.2:c.2151G>A	XP_011523945.1:p.Ala717=
XM_017025684.1:c.1587G>A	XP_016881173.1:p.Ala529=
XR_001753172.1:n.2340G>A
XR_001753173.1:n.2340G>A
XR_001753174.1:n.2340G>A
XR_001753175.1:n.2340G>A
XR_001753176.1:n.2340G>A
XR_001753177.1:n.2340G>A
XR_001753178.1:n.2340G>A
XR_001753179.1:n.2340G>A
XR_935055.2:n.2340G>A
NM_015295.3:c.2151G>A MANE Select	NP_056110.2:p.Ala717=