Canonical Allele Identifier: CA295471823

Gene: SMCHD1

Linked Data

• dbSNP Id: rs1003641251
• gnomAD v4: 18-2697965-A-G
• MyVariant Identifiers: chr18:g.2697963A>G (hg19) ; chr18:g.2697965A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2697965A>G , CM000680.2:g.2697965A>G	GRCh38
NC_000018.9:g.2697963A>G , CM000680.1:g.2697963A>G	GRCh37
NC_000018.8:g.2687963A>G	NCBI36
NG_031972.1:g.47078A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1423A>G
ENST00000688342.1:c.1266A>G	ENSP00000508422.1:p.Val422=
ENST00000693213.1:n.544A>G
ENST00000320876.11:c.1266A>G MANE Select	ENSP00000326603.7:p.Val422=
ENST00000320876.10:c.1266A>G	ENSP00000326603.6:p.Val422=
NM_015295.2:c.1266A>G	NP_056110.2:p.Val422=
XM_011525642.1:c.1266A>G	XP_011523944.1:p.Val422=
XM_011525643.1:c.1266A>G	XP_011523945.1:p.Val422=
XM_011525644.1:c.882A>G	XP_011523946.1:p.Val294=
XM_011525645.1:c.702A>G	XP_011523947.1:p.Val234=
XM_011525646.1:c.1266A>G	XP_011523948.1:p.Val422=
XM_011525647.1:c.1266A>G	XP_011523949.1:p.Val422=
XR_430039.1:n.1455A>G
XR_935054.1:n.1455A>G
XR_935055.1:n.1455A>G
XM_011525643.2:c.1266A>G	XP_011523945.1:p.Val422=
XM_017025684.1:c.702A>G	XP_016881173.1:p.Val234=
XR_001753172.1:n.1455A>G
XR_001753173.1:n.1455A>G
XR_001753174.1:n.1455A>G
XR_001753175.1:n.1455A>G
XR_001753176.1:n.1455A>G
XR_001753177.1:n.1455A>G
XR_001753178.1:n.1455A>G
XR_001753179.1:n.1455A>G
XR_935055.2:n.1455A>G
NM_015295.3:c.1266A>G MANE Select	NP_056110.2:p.Val422=