Canonical Allele Identifier: CA16602275

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 375760
• ClinVar RCV Id: RCV000417316 ; RCV000497013 ; RCV002521501
• dbSNP Id: rs1057519639
• MyVariant Identifiers: chr18:g.2694685A>G (hg19) ; chr18:g.2694687A>G (hg38)
• PubMed: PMID:8723126 ; PMID:28067909

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2694687A>G , CM000680.2:g.2694687A>G	GRCh38
NC_000018.9:g.2694685A>G , CM000680.1:g.2694685A>G	GRCh37
NC_000018.8:g.2684685A>G	NCBI36
NG_031972.1:g.43800A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1191A>G
ENST00000688342.1:c.1034A>G	ENSP00000508422.1:p.Gln345Arg
ENST00000693213.1:n.312A>G
ENST00000320876.11:c.1034A>G MANE Select	ENSP00000326603.7:p.Gln345Arg
ENST00000320876.10:c.1034A>G	ENSP00000326603.6:p.Gln345Arg
ENST00000581226.1:n.268A>G
NM_015295.2:c.1034A>G	NP_056110.2:p.Gln345Arg
XM_011525642.1:c.1034A>G	XP_011523944.1:p.Gln345Arg
XM_011525643.1:c.1034A>G	XP_011523945.1:p.Gln345Arg
XM_011525644.1:c.650A>G	XP_011523946.1:p.Gln217Arg
XM_011525645.1:c.470A>G	XP_011523947.1:p.Gln157Arg
XM_011525646.1:c.1034A>G	XP_011523948.1:p.Gln345Arg
XM_011525647.1:c.1034A>G	XP_011523949.1:p.Gln345Arg
XR_430039.1:n.1223A>G
XR_935054.1:n.1223A>G
XR_935055.1:n.1223A>G
XM_011525643.2:c.1034A>G	XP_011523945.1:p.Gln345Arg
XM_017025684.1:c.470A>G	XP_016881173.1:p.Gln157Arg
XR_001753172.1:n.1223A>G
XR_001753173.1:n.1223A>G
XR_001753174.1:n.1223A>G
XR_001753175.1:n.1223A>G
XR_001753176.1:n.1223A>G
XR_001753177.1:n.1223A>G
XR_001753178.1:n.1223A>G
XR_001753179.1:n.1223A>G
XR_935055.2:n.1223A>G
NM_015295.3:c.1034A>G MANE Select	NP_056110.2:p.Gln345Arg