Canonical Allele Identifier: CA10607099

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 291312
• ClinVar RCV Id: RCV000361350
• dbSNP Id: rs886044914
• MyVariant Identifiers: chr18:g.2697986_2697988del (hg19) ; chr18:g.2697988_2697990del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2697988_2697990del , CM000680.2:g.2697988_2697990del	GRCh38
NC_000018.9:g.2697986_2697988del , CM000680.1:g.2697986_2697988del	GRCh37
NC_000018.8:g.2687986_2687988del	NCBI36
NG_031972.1:g.47101_47103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1446_1448del
ENST00000688342.1:c.1289_1291del	ENSP00000508422.1:p.His430del
ENST00000693213.1:n.567_569del
ENST00000320876.11:c.1289_1291del MANE Select	ENSP00000326603.7:p.His430del
ENST00000320876.10:c.1289_1291del	ENSP00000326603.6:p.His430del
NM_015295.2:c.1289_1291del	NP_056110.2:p.His430del
XM_011525642.1:c.1289_1291del	XP_011523944.1:p.His430del
XM_011525643.1:c.1289_1291del	XP_011523945.1:p.His430del
XM_011525644.1:c.905_907del	XP_011523946.1:p.His302del
XM_011525645.1:c.725_727del	XP_011523947.1:p.His242del
XM_011525646.1:c.1289_1291del	XP_011523948.1:p.His430del
XM_011525647.1:c.1289_1291del	XP_011523949.1:p.His430del
XR_430039.1:n.1478_1480del
XR_935054.1:n.1478_1480del
XR_935055.1:n.1478_1480del
XM_011525643.2:c.1289_1291del	XP_011523945.1:p.His430del
XM_017025684.1:c.725_727del	XP_016881173.1:p.His242del
XR_001753172.1:n.1478_1480del
XR_001753173.1:n.1478_1480del
XR_001753174.1:n.1478_1480del
XR_001753175.1:n.1478_1480del
XR_001753176.1:n.1478_1480del
XR_001753177.1:n.1478_1480del
XR_001753178.1:n.1478_1480del
XR_001753179.1:n.1478_1480del
XR_935055.2:n.1478_1480del
NM_015295.3:c.1289_1291del MANE Select	NP_056110.2:p.His430del