Canonical Allele Identifier: CA401697946

Gene: SMCHD1

Linked Data

• dbSNP Id: rs1248307231
• gnomAD v2: 18-2698004-G-C
• gnomAD v4: 18-2698006-G-C
• MyVariant Identifiers: chr18:g.2698004G>C (hg19) ; chr18:g.2698006G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2698006G>C , CM000680.2:g.2698006G>C	GRCh38
NC_000018.9:g.2698004G>C , CM000680.1:g.2698004G>C	GRCh37
NC_000018.8:g.2688004G>C	NCBI36
NG_031972.1:g.47119G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1464G>C
ENST00000688342.1:c.1307G>C	ENSP00000508422.1:p.Arg436Thr
ENST00000693213.1:n.585G>C
ENST00000320876.11:c.1307G>C MANE Select	ENSP00000326603.7:p.Arg436Thr
ENST00000320876.10:c.1307G>C	ENSP00000326603.6:p.Arg436Thr
NM_015295.2:c.1307G>C	NP_056110.2:p.Arg436Thr
XM_011525642.1:c.1307G>C	XP_011523944.1:p.Arg436Thr
XM_011525643.1:c.1307G>C	XP_011523945.1:p.Arg436Thr
XM_011525644.1:c.923G>C	XP_011523946.1:p.Arg308Thr
XM_011525645.1:c.743G>C	XP_011523947.1:p.Arg248Thr
XM_011525646.1:c.1307G>C	XP_011523948.1:p.Arg436Thr
XM_011525647.1:c.1307G>C	XP_011523949.1:p.Arg436Thr
XR_430039.1:n.1496G>C
XR_935054.1:n.1496G>C
XR_935055.1:n.1496G>C
XM_011525643.2:c.1307G>C	XP_011523945.1:p.Arg436Thr
XM_017025684.1:c.743G>C	XP_016881173.1:p.Arg248Thr
XR_001753172.1:n.1496G>C
XR_001753173.1:n.1496G>C
XR_001753174.1:n.1496G>C
XR_001753175.1:n.1496G>C
XR_001753176.1:n.1496G>C
XR_001753177.1:n.1496G>C
XR_001753178.1:n.1496G>C
XR_001753179.1:n.1496G>C
XR_935055.2:n.1496G>C
NM_015295.3:c.1307G>C MANE Select	NP_056110.2:p.Arg436Thr