Canonical Allele Identifier: CA8870698

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 285957
• ClinVar RCV Id: RCV000356889
• dbSNP Id: rs752031550
• ExAC: 18:2697835 A / G
• gnomAD v2: 18-2697835-A-G
• gnomAD v4: 18-2697837-A-G
• MyVariant Identifiers: chr18:g.2697835A>G (hg19) ; chr18:g.2697837A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2697837A>G , CM000680.2:g.2697837A>G	GRCh38
NC_000018.9:g.2697835A>G , CM000680.1:g.2697835A>G	GRCh37
NC_000018.8:g.2687835A>G	NCBI36
NG_031972.1:g.46950A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1295A>G
ENST00000688342.1:c.1138A>G	ENSP00000508422.1:p.Met380Val
ENST00000693213.1:n.416A>G
ENST00000320876.11:c.1138A>G MANE Select	ENSP00000326603.7:p.Met380Val
ENST00000320876.10:c.1138A>G	ENSP00000326603.6:p.Met380Val
NM_015295.2:c.1138A>G	NP_056110.2:p.Met380Val
XM_011525642.1:c.1138A>G	XP_011523944.1:p.Met380Val
XM_011525643.1:c.1138A>G	XP_011523945.1:p.Met380Val
XM_011525644.1:c.754A>G	XP_011523946.1:p.Met252Val
XM_011525645.1:c.574A>G	XP_011523947.1:p.Met192Val
XM_011525646.1:c.1138A>G	XP_011523948.1:p.Met380Val
XM_011525647.1:c.1138A>G	XP_011523949.1:p.Met380Val
XR_430039.1:n.1327A>G
XR_935054.1:n.1327A>G
XR_935055.1:n.1327A>G
XM_011525643.2:c.1138A>G	XP_011523945.1:p.Met380Val
XM_017025684.1:c.574A>G	XP_016881173.1:p.Met192Val
XR_001753172.1:n.1327A>G
XR_001753173.1:n.1327A>G
XR_001753174.1:n.1327A>G
XR_001753175.1:n.1327A>G
XR_001753176.1:n.1327A>G
XR_001753177.1:n.1327A>G
XR_001753178.1:n.1327A>G
XR_001753179.1:n.1327A>G
XR_935055.2:n.1327A>G
NM_015295.3:c.1138A>G MANE Select	NP_056110.2:p.Met380Val