Canonical Allele Identifier: CA2280681383

Gene: SMCHD1

Linked Data

• dbSNP Id: rs2074323372
• gnomAD v4: 18-2698180-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2698180A>G , CM000680.2:g.2698180A>G	GRCh38
NC_000018.9:g.2698178A>G , CM000680.1:g.2698178A>G	GRCh37
NC_000018.8:g.2688178A>G	NCBI36
NG_031972.1:g.47293A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1499+139A>G
ENST00000688342.1:c.1342+139A>G	ENSP00000508422.1:n.1342+139A>G
ENST00000693213.1:n.620+139A>G
ENST00000320876.11:c.1342+139A>G MANE Select	ENSP00000326603.7:n.1342+139A>G
ENST00000320876.10:c.1342+139A>G	ENSP00000326603.6:n.1342+139A>G
NM_015295.2:c.1342+139A>G	NP_056110.2:n.1342+139A>G
XM_011525642.1:c.1342+139A>G	XP_011523944.1:n.1342+139A>G
XM_011525643.1:c.1342+139A>G	XP_011523945.1:n.1342+139A>G
XM_011525644.1:c.958+139A>G	XP_011523946.1:n.958+139A>G
XM_011525645.1:c.778+139A>G	XP_011523947.1:n.778+139A>G
XM_011525646.1:c.1342+139A>G	XP_011523948.1:n.1342+139A>G
XM_011525647.1:c.1342+139A>G	XP_011523949.1:n.1342+139A>G
XR_430039.1:n.1531+139A>G
XR_935054.1:n.1531+139A>G
XR_935055.1:n.1531+139A>G
XM_011525643.2:c.1342+139A>G	XP_011523945.1:n.1342+139A>G
XM_017025684.1:c.778+139A>G	XP_016881173.1:n.778+139A>G
XR_001753172.1:n.1531+139A>G
XR_001753173.1:n.1531+139A>G
XR_001753174.1:n.1531+139A>G
XR_001753175.1:n.1531+139A>G
XR_001753176.1:n.1531+139A>G
XR_001753177.1:n.1531+139A>G
XR_001753178.1:n.1531+139A>G
XR_001753179.1:n.1531+139A>G
XR_935055.2:n.1531+139A>G
NM_015295.3:c.1342+139A>G MANE Select	NP_056110.2:n.1342+139A>G