Canonical Allele Identifier: CA8871758

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 500363
• ClinVar RCV Id: RCV003767381
• dbSNP Id: rs776598393
• ExAC: 18:2784547 A / G
• gnomAD v2: 18-2784547-A-G
• gnomAD v4: 18-2784549-A-G
• MyVariant Identifiers: chr18:g.2784547A>G (hg19) ; chr18:g.2784549A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2784549A>G , CM000680.2:g.2784549A>G	GRCh38
NC_000018.9:g.2784547A>G , CM000680.1:g.2784547A>G	GRCh37
NC_000018.8:g.2774547A>G	NCBI36
NG_031972.1:g.133662A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000685656.1:n.1954A>G
ENST00000686763.1:c.*1206A>G	ENSP00000510263.1:n.*1206A>G
ENST00000686864.1:c.2338A>G
ENST00000688342.1:c.5515A>G	ENSP00000508422.1:p.Met1839Val
ENST00000688708.1:n.4376A>G
ENST00000688964.1:n.2156A>G
ENST00000689034.1:n.3594A>G
ENST00000689800.1:n.1764A>G
ENST00000320876.11:c.5647A>G MANE Select	ENSP00000326603.7:p.Met1883Val
ENST00000642953.1:c.549A>G
ENST00000645355.1:c.1692A>G
ENST00000320876.10:c.5647A>G	ENSP00000326603.6:p.Met1883Val
ENST00000577880.5:c.4060A>G	ENSP00000463049.1:p.Met1354Val
ENST00000584897.5:c.3396A>G
NM_015295.2:c.5647A>G	NP_056110.2:p.Met1883Val
XM_011525642.1:c.5647A>G	XP_011523944.1:p.Met1883Val
XM_011525643.1:c.5647A>G	XP_011523945.1:p.Met1883Val
XM_011525644.1:c.5263A>G	XP_011523946.1:p.Met1755Val
XM_011525645.1:c.5083A>G	XP_011523947.1:p.Met1695Val
XR_430039.1:n.5765A>G
XR_935054.1:n.5645A>G
XM_011525643.2:c.5647A>G	XP_011523945.1:p.Met1883Val
XM_017025684.1:c.5083A>G	XP_016881173.1:p.Met1695Val
XR_001753172.1:n.5836A>G
XR_001753173.1:n.5836A>G
XR_001753174.1:n.5765A>G
XR_001753175.1:n.5765A>G
XR_001753176.1:n.5645A>G
XR_001753177.1:n.5748A>G
XR_001753178.1:n.5685A>G
NM_015295.3:c.5647A>G MANE Select	NP_056110.2:p.Met1883Val