Canonical Allele Identifier: CA401695240

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 464158
• ClinVar RCV Id: RCV003156250 ; RCV000559900
• dbSNP Id: rs1245372794
• gnomAD v3: 18-2694694-G-A
• gnomAD v4: 18-2694694-G-A
• MyVariant Identifiers: chr18:g.2694692G>A (hg19) ; chr18:g.2694694G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2694694G>A , CM000680.2:g.2694694G>A	GRCh38
NC_000018.9:g.2694692G>A , CM000680.1:g.2694692G>A	GRCh37
NC_000018.8:g.2684692G>A	NCBI36
NG_031972.1:g.43807G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1197+1G>A
ENST00000688342.1:c.1040+1G>A	ENSP00000508422.1:n.1040+1G>A
ENST00000693213.1:n.318+1G>A
ENST00000320876.11:c.1040+1G>A MANE Select	ENSP00000326603.7:n.1040+1G>A
ENST00000320876.10:c.1040+1G>A	ENSP00000326603.6:n.1040+1G>A
ENST00000581226.1:n.274+1G>A
NM_015295.2:c.1040+1G>A	NP_056110.2:n.1040+1G>A
XM_011525642.1:c.1040+1G>A	XP_011523944.1:n.1040+1G>A
XM_011525643.1:c.1040+1G>A	XP_011523945.1:n.1040+1G>A
XM_011525644.1:c.656+1G>A	XP_011523946.1:n.656+1G>A
XM_011525645.1:c.476+1G>A	XP_011523947.1:n.476+1G>A
XM_011525646.1:c.1040+1G>A	XP_011523948.1:n.1040+1G>A
XM_011525647.1:c.1040+1G>A	XP_011523949.1:n.1040+1G>A
XR_430039.1:n.1229+1G>A
XR_935054.1:n.1229+1G>A
XR_935055.1:n.1229+1G>A
XM_011525643.2:c.1040+1G>A	XP_011523945.1:n.1040+1G>A
XM_017025684.1:c.476+1G>A	XP_016881173.1:n.476+1G>A
XR_001753172.1:n.1229+1G>A
XR_001753173.1:n.1229+1G>A
XR_001753174.1:n.1229+1G>A
XR_001753175.1:n.1229+1G>A
XR_001753176.1:n.1229+1G>A
XR_001753177.1:n.1229+1G>A
XR_001753178.1:n.1229+1G>A
XR_001753179.1:n.1229+1G>A
XR_935055.2:n.1229+1G>A
NM_015295.3:c.1040+1G>A MANE Select	NP_056110.2:n.1040+1G>A