Canonical Allele Identifier: CA401697008

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 689563
• ClinVar RCV Id: RCV000850316
• dbSNP Id: rs1598331615
• gnomAD v4: 18-2697871-A-G
• MyVariant Identifiers: chr18:g.2697869A>G (hg19) ; chr18:g.2697871A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2697871A>G , CM000680.2:g.2697871A>G	GRCh38
NC_000018.9:g.2697869A>G , CM000680.1:g.2697869A>G	GRCh37
NC_000018.8:g.2687869A>G	NCBI36
NG_031972.1:g.46984A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1329A>G
ENST00000688342.1:c.1172A>G	ENSP00000508422.1:p.Asn391Ser
ENST00000693213.1:n.450A>G
ENST00000320876.11:c.1172A>G MANE Select	ENSP00000326603.7:p.Asn391Ser
ENST00000320876.10:c.1172A>G	ENSP00000326603.6:p.Asn391Ser
NM_015295.2:c.1172A>G	NP_056110.2:p.Asn391Ser
XM_011525642.1:c.1172A>G	XP_011523944.1:p.Asn391Ser
XM_011525643.1:c.1172A>G	XP_011523945.1:p.Asn391Ser
XM_011525644.1:c.788A>G	XP_011523946.1:p.Asn263Ser
XM_011525645.1:c.608A>G	XP_011523947.1:p.Asn203Ser
XM_011525646.1:c.1172A>G	XP_011523948.1:p.Asn391Ser
XM_011525647.1:c.1172A>G	XP_011523949.1:p.Asn391Ser
XR_430039.1:n.1361A>G
XR_935054.1:n.1361A>G
XR_935055.1:n.1361A>G
XM_011525643.2:c.1172A>G	XP_011523945.1:p.Asn391Ser
XM_017025684.1:c.608A>G	XP_016881173.1:p.Asn203Ser
XR_001753172.1:n.1361A>G
XR_001753173.1:n.1361A>G
XR_001753174.1:n.1361A>G
XR_001753175.1:n.1361A>G
XR_001753176.1:n.1361A>G
XR_001753177.1:n.1361A>G
XR_001753178.1:n.1361A>G
XR_001753179.1:n.1361A>G
XR_935055.2:n.1361A>G
NM_015295.3:c.1172A>G MANE Select	NP_056110.2:p.Asn391Ser