Canonical Allele Identifier: CA16602279

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 375764
• ClinVar RCV Id: RCV000417233 ; RCV000497012
• dbSNP Id: rs1057519643
• MyVariant Identifiers: chr18:g.2667014A>C (hg19) ; chr18:g.2667015A>C (hg38)
• PubMed: PMID:26842768 ; PMID:28067909

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2667015A>C , CM000680.2:g.2667015A>C	GRCh38
NC_000018.9:g.2667014A>C , CM000680.1:g.2667014A>C	GRCh37
NC_000018.8:g.2657014A>C	NCBI36
NG_031972.1:g.16129A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684915.1:n.565A>C
ENST00000688342.1:c.408A>C	ENSP00000508422.1:p.Glu136Asp
ENST00000320876.11:c.408A>C MANE Select	ENSP00000326603.7:p.Glu136Asp
ENST00000320876.10:c.408A>C	ENSP00000326603.6:p.Glu136Asp
NM_015295.2:c.408A>C	NP_056110.2:p.Glu136Asp
XM_011525642.1:c.408A>C	XP_011523944.1:p.Glu136Asp
XM_011525643.1:c.408A>C	XP_011523945.1:p.Glu136Asp
XM_011525644.1:c.24A>C	XP_011523946.1:p.Glu8Asp
XM_011525645.1:c.-335A>C	XP_011523947.1:n.-335A>C
XM_011525646.1:c.408A>C	XP_011523948.1:p.Glu136Asp
XM_011525647.1:c.408A>C	XP_011523949.1:p.Glu136Asp
XR_430039.1:n.597A>C
XR_935054.1:n.597A>C
XR_935055.1:n.597A>C
XM_011525643.2:c.408A>C	XP_011523945.1:p.Glu136Asp
XM_017025684.1:c.-335A>C	XP_016881173.1:n.-335A>C
XR_001753172.1:n.597A>C
XR_001753173.1:n.597A>C
XR_001753174.1:n.597A>C
XR_001753175.1:n.597A>C
XR_001753176.1:n.597A>C
XR_001753177.1:n.597A>C
XR_001753178.1:n.597A>C
XR_001753179.1:n.597A>C
XR_935055.2:n.597A>C
NM_015295.3:c.408A>C MANE Select	NP_056110.2:p.Glu136Asp