Canonical Allele Identifier: CA242785

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 196033
• ClinVar RCV Id: RCV000253942 ; RCV001081303 ; RCV003258683 ; RCV000724669
• dbSNP Id: rs76290319
• ExAC: 18:2739448 T / A
• gnomAD v2: 18-2739448-T-A
• gnomAD v3: 18-2739450-T-A
• gnomAD v4: 18-2739450-T-A
• MyVariant Identifiers: chr18:g.2739448T>A (hg19) ; chr18:g.2739450T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2739450T>A , CM000680.2:g.2739450T>A	GRCh38
NC_000018.9:g.2739448T>A , CM000680.1:g.2739448T>A	GRCh37
NC_000018.8:g.2729448T>A	NCBI36
NG_031972.1:g.88563T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583441.2:n.1130T>A
ENST00000686763.1:c.249T>A	ENSP00000510263.1:p.Pro83=
ENST00000686864.1:c.206T>A
ENST00000688342.1:c.3444T>A	ENSP00000508422.1:p.Pro1148=
ENST00000688708.1:n.2100T>A
ENST00000690757.1:n.901T>A
ENST00000693213.1:n.2722T>A
ENST00000320876.11:c.3444T>A MANE Select	ENSP00000326603.7:p.Pro1148=
ENST00000320876.10:c.3444T>A	ENSP00000326603.6:p.Pro1148=
ENST00000577880.5:c.1857T>A	ENSP00000463049.1:p.Pro619=
ENST00000581631.1:n.714T>A
ENST00000584897.5:c.1264T>A
NM_015295.2:c.3444T>A	NP_056110.2:p.Pro1148=
XM_011525642.1:c.3444T>A	XP_011523944.1:p.Pro1148=
XM_011525643.1:c.3444T>A	XP_011523945.1:p.Pro1148=
XM_011525644.1:c.3060T>A	XP_011523946.1:p.Pro1020=
XM_011525645.1:c.2880T>A	XP_011523947.1:p.Pro960=
XM_011525646.1:c.3444T>A	XP_011523948.1:p.Pro1148=
XM_011525647.1:c.3444T>A	XP_011523949.1:p.Pro1148=
XR_430039.1:n.3633T>A
XR_935054.1:n.3633T>A
XR_935055.1:n.3633T>A
XM_011525643.2:c.3444T>A	XP_011523945.1:p.Pro1148=
XM_017025684.1:c.2880T>A	XP_016881173.1:p.Pro960=
XR_001753172.1:n.3633T>A
XR_001753173.1:n.3633T>A
XR_001753174.1:n.3633T>A
XR_001753175.1:n.3633T>A
XR_001753176.1:n.3633T>A
XR_001753177.1:n.3633T>A
XR_001753178.1:n.3633T>A
XR_001753179.1:n.3633T>A
XR_935055.2:n.3633T>A
NM_015295.3:c.3444T>A MANE Select	NP_056110.2:p.Pro1148=