Canonical Allele Identifier: CA502670783

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 1626979
• ClinVar RCV Id: RCV002120687
• dbSNP Id: rs2143806315
• gnomAD v4: 18-2667027-T-G
• MyVariant Identifiers: chr18:g.2667026T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2667027T>G , CM000680.2:g.2667027T>G	GRCh38
NC_000018.9:g.2667026T>G , CM000680.1:g.2667026T>G	GRCh37
NC_000018.8:g.2657026T>G	NCBI36
NG_031972.1:g.16141T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.577T>G
ENST00000688342.1:c.420T>G	ENSP00000508422.1:p.Pro140=
ENST00000320876.11:c.420T>G MANE Select	ENSP00000326603.7:p.Pro140=
ENST00000320876.10:c.420T>G	ENSP00000326603.6:p.Pro140=
NM_015295.2:c.420T>G	NP_056110.2:p.Pro140=
XM_011525642.1:c.420T>G	XP_011523944.1:p.Pro140=
XM_011525643.1:c.420T>G	XP_011523945.1:p.Pro140=
XM_011525644.1:c.36T>G	XP_011523946.1:p.Pro12=
XM_011525645.1:c.-323T>G	XP_011523947.1:n.-323T>G
XM_011525646.1:c.420T>G	XP_011523948.1:p.Pro140=
XM_011525647.1:c.420T>G	XP_011523949.1:p.Pro140=
XR_430039.1:n.609T>G
XR_935054.1:n.609T>G
XR_935055.1:n.609T>G
XM_011525643.2:c.420T>G	XP_011523945.1:p.Pro140=
XM_017025684.1:c.-323T>G	XP_016881173.1:n.-323T>G
XR_001753172.1:n.609T>G
XR_001753173.1:n.609T>G
XR_001753174.1:n.609T>G
XR_001753175.1:n.609T>G
XR_001753176.1:n.609T>G
XR_001753177.1:n.609T>G
XR_001753178.1:n.609T>G
XR_001753179.1:n.609T>G
XR_935055.2:n.609T>G
NM_015295.3:c.420T>G MANE Select	NP_056110.2:p.Pro140=