Canonical Allele Identifier: CA10604207

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 282530
• ClinVar RCV Id: RCV000033085 ; RCV000356100
• dbSNP Id: rs886042417
• gnomAD v4: 18-2743929-G-A
• MyVariant Identifiers: chr18:g.2743927G>A (hg19) ; chr18:g.2743929G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2743929G>A , CM000680.2:g.2743929G>A	GRCh38
NC_000018.9:g.2743927G>A , CM000680.1:g.2743927G>A	GRCh37
NC_000018.8:g.2733927G>A	NCBI36
NG_031972.1:g.93042G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583441.2:n.1487+1G>A
ENST00000686763.1:c.606+1G>A	ENSP00000510263.1:n.606+1G>A
ENST00000686864.1:c.563+1G>A
ENST00000688342.1:c.3801+1G>A	ENSP00000508422.1:n.3801+1G>A
ENST00000688708.1:n.2457+1G>A
ENST00000690757.1:n.1258+1G>A
ENST00000693213.1:n.3079+1G>A
ENST00000320876.11:c.3801+1G>A MANE Select	ENSP00000326603.7:n.3801+1G>A
ENST00000320876.10:c.3801+1G>A	ENSP00000326603.6:n.3801+1G>A
ENST00000577880.5:c.2214+1G>A	ENSP00000463049.1:n.2214+1G>A
ENST00000584897.5:c.1621+1G>A
NM_015295.2:c.3801+1G>A	NP_056110.2:n.3801+1G>A
XM_011525642.1:c.3801+1G>A	XP_011523944.1:n.3801+1G>A
XM_011525643.1:c.3801+1G>A	XP_011523945.1:n.3801+1G>A
XM_011525644.1:c.3417+1G>A	XP_011523946.1:n.3417+1G>A
XM_011525645.1:c.3237+1G>A	XP_011523947.1:n.3237+1G>A
XM_011525646.1:c.3801+1G>A	XP_011523948.1:n.3801+1G>A
XM_011525647.1:c.3801+1G>A	XP_011523949.1:n.3801+1G>A
XR_430039.1:n.3990+1G>A
XR_935054.1:n.3990+1G>A
XR_935055.1:n.3990+1G>A
XM_011525643.2:c.3801+1G>A	XP_011523945.1:n.3801+1G>A
XM_017025684.1:c.3237+1G>A	XP_016881173.1:n.3237+1G>A
XR_001753172.1:n.3990+1G>A
XR_001753173.1:n.3990+1G>A
XR_001753174.1:n.3990+1G>A
XR_001753175.1:n.3990+1G>A
XR_001753176.1:n.3990+1G>A
XR_001753177.1:n.3990+1G>A
XR_001753178.1:n.3990+1G>A
XR_001753179.1:n.3990+1G>A
XR_935055.2:n.3990+1G>A
NM_015295.3:c.3801+1G>A MANE Select	NP_056110.2:n.3801+1G>A