Canonical Allele Identifier: CA8870692

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 3016886
• ClinVar RCV Id: RCV003879021
• dbSNP Id: rs573429239
• ExAC: 18:2697809 T / G
• gnomAD v2: 18-2697809-T-G
• gnomAD v3: 18-2697811-T-G
• gnomAD v4: 18-2697811-T-G
• MyVariant Identifiers: chr18:g.2697809T>G (hg19) ; chr18:g.2697811T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2697811T>G , CM000680.2:g.2697811T>G	GRCh38
NC_000018.9:g.2697809T>G , CM000680.1:g.2697809T>G	GRCh37
NC_000018.8:g.2687809T>G	NCBI36
NG_031972.1:g.46924T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684915.1:n.1289-20T>G
ENST00000688342.1:c.1132-20T>G	ENSP00000508422.1:n.1132-20T>G
ENST00000693213.1:n.410-20T>G
ENST00000320876.11:c.1132-20T>G MANE Select	ENSP00000326603.7:n.1132-20T>G
ENST00000320876.10:c.1132-20T>G	ENSP00000326603.6:n.1132-20T>G
NM_015295.2:c.1132-20T>G	NP_056110.2:n.1132-20T>G
XM_011525642.1:c.1132-20T>G	XP_011523944.1:n.1132-20T>G
XM_011525643.1:c.1132-20T>G	XP_011523945.1:n.1132-20T>G
XM_011525644.1:c.748-20T>G	XP_011523946.1:n.748-20T>G
XM_011525645.1:c.568-20T>G	XP_011523947.1:n.568-20T>G
XM_011525646.1:c.1132-20T>G	XP_011523948.1:n.1132-20T>G
XM_011525647.1:c.1132-20T>G	XP_011523949.1:n.1132-20T>G
XR_430039.1:n.1321-20T>G
XR_935054.1:n.1321-20T>G
XR_935055.1:n.1321-20T>G
XM_011525643.2:c.1132-20T>G	XP_011523945.1:n.1132-20T>G
XM_017025684.1:c.568-20T>G	XP_016881173.1:n.568-20T>G
XR_001753172.1:n.1321-20T>G
XR_001753173.1:n.1321-20T>G
XR_001753174.1:n.1321-20T>G
XR_001753175.1:n.1321-20T>G
XR_001753176.1:n.1321-20T>G
XR_001753177.1:n.1321-20T>G
XR_001753178.1:n.1321-20T>G
XR_001753179.1:n.1321-20T>G
XR_935055.2:n.1321-20T>G
NM_015295.3:c.1132-20T>G MANE Select	NP_056110.2:n.1132-20T>G