Canonical Allele Identifier: CA261230

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 39855
• ClinVar RCV Id: RCV000033082
• dbSNP Id: rs387907319
• MyVariant Identifiers: chr18:g.2697999_2698003del (hg19) ; chr18:g.2698001_2698005del (hg38)
• PubMed: PMID:23143600

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2698001_2698005del , CM000680.2:g.2698001_2698005del	GRCh38
NC_000018.9:g.2697999_2698003del , CM000680.1:g.2697999_2698003del	GRCh37
NC_000018.8:g.2687999_2688003del	NCBI36
NG_031972.1:g.47114_47118del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1459_1463del
ENST00000688342.1:c.1302_1306del	ENSP00000508422.1:p.Tyr434Ter
ENST00000693213.1:n.580_584del
ENST00000320876.11:c.1302_1306del MANE Select	ENSP00000326603.7:p.Tyr434Ter
ENST00000320876.10:c.1302_1306del	ENSP00000326603.6:p.Tyr434Ter
NM_015295.2:c.1302_1306del	NP_056110.2:p.Tyr434Ter
XM_011525642.1:c.1302_1306del	XP_011523944.1:p.Tyr434Ter
XM_011525643.1:c.1302_1306del	XP_011523945.1:p.Tyr434Ter
XM_011525644.1:c.918_922del	XP_011523946.1:p.Tyr306Ter
XM_011525645.1:c.738_742del	XP_011523947.1:p.Tyr246Ter
XM_011525646.1:c.1302_1306del	XP_011523948.1:p.Tyr434Ter
XM_011525647.1:c.1302_1306del	XP_011523949.1:p.Tyr434Ter
XR_430039.1:n.1491_1495del
XR_935054.1:n.1491_1495del
XR_935055.1:n.1491_1495del
XM_011525643.2:c.1302_1306del	XP_011523945.1:p.Tyr434Ter
XM_017025684.1:c.738_742del	XP_016881173.1:p.Tyr246Ter
XR_001753172.1:n.1491_1495del
XR_001753173.1:n.1491_1495del
XR_001753174.1:n.1491_1495del
XR_001753175.1:n.1491_1495del
XR_001753176.1:n.1491_1495del
XR_001753177.1:n.1491_1495del
XR_001753178.1:n.1491_1495del
XR_001753179.1:n.1491_1495del
XR_935055.2:n.1491_1495del
NM_015295.3:c.1302_1306del MANE Select	NP_056110.2:p.Tyr434Ter