Canonical Allele Identifier: CA401694636

Gene: SMCHD1

Linked Data

• MyVariant Identifiers: chr18:g.2694591A>G (hg19) ; chr18:g.2694593A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2694593A>G , CM000680.2:g.2694593A>G	GRCh38
NC_000018.9:g.2694591A>G , CM000680.1:g.2694591A>G	GRCh37
NC_000018.8:g.2684591A>G	NCBI36
NG_031972.1:g.43706A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684915.1:n.1097A>G
ENST00000688342.1:c.940A>G	ENSP00000508422.1:p.Lys314Glu
ENST00000693213.1:n.218A>G
ENST00000320876.11:c.940A>G MANE Select	ENSP00000326603.7:p.Lys314Glu
ENST00000320876.10:c.940A>G	ENSP00000326603.6:p.Lys314Glu
ENST00000581226.1:n.174A>G
NM_015295.2:c.940A>G	NP_056110.2:p.Lys314Glu
XM_011525642.1:c.940A>G	XP_011523944.1:p.Lys314Glu
XM_011525643.1:c.940A>G	XP_011523945.1:p.Lys314Glu
XM_011525644.1:c.556A>G	XP_011523946.1:p.Lys186Glu
XM_011525645.1:c.376A>G	XP_011523947.1:p.Lys126Glu
XM_011525646.1:c.940A>G	XP_011523948.1:p.Lys314Glu
XM_011525647.1:c.940A>G	XP_011523949.1:p.Lys314Glu
XR_430039.1:n.1129A>G
XR_935054.1:n.1129A>G
XR_935055.1:n.1129A>G
XM_011525643.2:c.940A>G	XP_011523945.1:p.Lys314Glu
XM_017025684.1:c.376A>G	XP_016881173.1:p.Lys126Glu
XR_001753172.1:n.1129A>G
XR_001753173.1:n.1129A>G
XR_001753174.1:n.1129A>G
XR_001753175.1:n.1129A>G
XR_001753176.1:n.1129A>G
XR_001753177.1:n.1129A>G
XR_001753178.1:n.1129A>G
XR_001753179.1:n.1129A>G
XR_935055.2:n.1129A>G
NM_015295.3:c.940A>G MANE Select	NP_056110.2:p.Lys314Glu