Canonical Allele Identifier: CA10603333

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 280772
• ClinVar RCV Id: RCV000392001 ; RCV000791844
• dbSNP Id: rs886041918
• gnomAD v4: 18-2694683-C-T
• MyVariant Identifiers: chr18:g.2694681C>T (hg19) ; chr18:g.2694683C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2694683C>T , CM000680.2:g.2694683C>T	GRCh38
NC_000018.9:g.2694681C>T , CM000680.1:g.2694681C>T	GRCh37
NC_000018.8:g.2684681C>T	NCBI36
NG_031972.1:g.43796C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1187C>T
ENST00000688342.1:c.1030C>T	ENSP00000508422.1:p.Arg344Ter
ENST00000693213.1:n.308C>T
ENST00000320876.11:c.1030C>T MANE Select	ENSP00000326603.7:p.Arg344Ter
ENST00000320876.10:c.1030C>T	ENSP00000326603.6:p.Arg344Ter
ENST00000581226.1:n.264C>T
NM_015295.2:c.1030C>T	NP_056110.2:p.Arg344Ter
XM_011525642.1:c.1030C>T	XP_011523944.1:p.Arg344Ter
XM_011525643.1:c.1030C>T	XP_011523945.1:p.Arg344Ter
XM_011525644.1:c.646C>T	XP_011523946.1:p.Arg216Ter
XM_011525645.1:c.466C>T	XP_011523947.1:p.Arg156Ter
XM_011525646.1:c.1030C>T	XP_011523948.1:p.Arg344Ter
XM_011525647.1:c.1030C>T	XP_011523949.1:p.Arg344Ter
XR_430039.1:n.1219C>T
XR_935054.1:n.1219C>T
XR_935055.1:n.1219C>T
XM_011525643.2:c.1030C>T	XP_011523945.1:p.Arg344Ter
XM_017025684.1:c.466C>T	XP_016881173.1:p.Arg156Ter
XR_001753172.1:n.1219C>T
XR_001753173.1:n.1219C>T
XR_001753174.1:n.1219C>T
XR_001753175.1:n.1219C>T
XR_001753176.1:n.1219C>T
XR_001753177.1:n.1219C>T
XR_001753178.1:n.1219C>T
XR_001753179.1:n.1219C>T
XR_935055.2:n.1219C>T
NM_015295.3:c.1030C>T MANE Select	NP_056110.2:p.Arg344Ter