Canonical Allele Identifier: CA8870717

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 1427231
• ClinVar RCV Id: RCV001933609
• dbSNP Id: rs767850671
• ExAC: 18:2697980 G / A
• gnomAD v2: 18-2697980-G-A
• gnomAD v3: 18-2697982-G-A
• gnomAD v4: 18-2697982-G-A
• MyVariant Identifiers: chr18:g.2697980G>A (hg19) ; chr18:g.2697982G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2697982G>A , CM000680.2:g.2697982G>A	GRCh38
NC_000018.9:g.2697980G>A , CM000680.1:g.2697980G>A	GRCh37
NC_000018.8:g.2687980G>A	NCBI36
NG_031972.1:g.47095G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1440G>A
ENST00000688342.1:c.1283G>A	ENSP00000508422.1:p.Arg428His
ENST00000693213.1:n.561G>A
ENST00000320876.11:c.1283G>A MANE Select	ENSP00000326603.7:p.Arg428His
ENST00000320876.10:c.1283G>A	ENSP00000326603.6:p.Arg428His
NM_015295.2:c.1283G>A	NP_056110.2:p.Arg428His
XM_011525642.1:c.1283G>A	XP_011523944.1:p.Arg428His
XM_011525643.1:c.1283G>A	XP_011523945.1:p.Arg428His
XM_011525644.1:c.899G>A	XP_011523946.1:p.Arg300His
XM_011525645.1:c.719G>A	XP_011523947.1:p.Arg240His
XM_011525646.1:c.1283G>A	XP_011523948.1:p.Arg428His
XM_011525647.1:c.1283G>A	XP_011523949.1:p.Arg428His
XR_430039.1:n.1472G>A
XR_935054.1:n.1472G>A
XR_935055.1:n.1472G>A
XM_011525643.2:c.1283G>A	XP_011523945.1:p.Arg428His
XM_017025684.1:c.719G>A	XP_016881173.1:p.Arg240His
XR_001753172.1:n.1472G>A
XR_001753173.1:n.1472G>A
XR_001753174.1:n.1472G>A
XR_001753175.1:n.1472G>A
XR_001753176.1:n.1472G>A
XR_001753177.1:n.1472G>A
XR_001753178.1:n.1472G>A
XR_001753179.1:n.1472G>A
XR_935055.2:n.1472G>A
NM_015295.3:c.1283G>A MANE Select	NP_056110.2:p.Arg428His