Canonical Allele Identifier: CA8871187

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 500396
• ClinVar RCV Id: RCV000597408 ; RCV001483319
• dbSNP Id: rs778892054
• ExAC: 18:2738532 G / A
• gnomAD v2: 18-2738532-G-A
• gnomAD v3: 18-2738534-G-A
• gnomAD v4: 18-2738534-G-A
• MyVariant Identifiers: chr18:g.2738532G>A (hg19) ; chr18:g.2738534G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2738534G>A , CM000680.2:g.2738534G>A	GRCh38
NC_000018.9:g.2738532G>A , CM000680.1:g.2738532G>A	GRCh37
NC_000018.8:g.2728532G>A	NCBI36
NG_031972.1:g.87647G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583441.2:n.1100G>A
ENST00000686763.1:c.219G>A	ENSP00000510263.1:p.Ala73=
ENST00000686864.1:c.176G>A
ENST00000688342.1:c.3414G>A	ENSP00000508422.1:p.Ala1138=
ENST00000688708.1:n.2070G>A
ENST00000690757.1:n.871G>A
ENST00000693213.1:n.2692G>A
ENST00000320876.11:c.3414G>A MANE Select	ENSP00000326603.7:p.Ala1138=
ENST00000320876.10:c.3414G>A	ENSP00000326603.6:p.Ala1138=
ENST00000577880.5:c.1827G>A	ENSP00000463049.1:p.Ala609=
ENST00000581631.1:n.684G>A
ENST00000584897.5:c.1234G>A
NM_015295.2:c.3414G>A	NP_056110.2:p.Ala1138=
XM_011525642.1:c.3414G>A	XP_011523944.1:p.Ala1138=
XM_011525643.1:c.3414G>A	XP_011523945.1:p.Ala1138=
XM_011525644.1:c.3030G>A	XP_011523946.1:p.Ala1010=
XM_011525645.1:c.2850G>A	XP_011523947.1:p.Ala950=
XM_011525646.1:c.3414G>A	XP_011523948.1:p.Ala1138=
XM_011525647.1:c.3414G>A	XP_011523949.1:p.Ala1138=
XR_430039.1:n.3603G>A
XR_935054.1:n.3603G>A
XR_935055.1:n.3603G>A
XM_011525643.2:c.3414G>A	XP_011523945.1:p.Ala1138=
XM_017025684.1:c.2850G>A	XP_016881173.1:p.Ala950=
XR_001753172.1:n.3603G>A
XR_001753173.1:n.3603G>A
XR_001753174.1:n.3603G>A
XR_001753175.1:n.3603G>A
XR_001753176.1:n.3603G>A
XR_001753177.1:n.3603G>A
XR_001753178.1:n.3603G>A
XR_001753179.1:n.3603G>A
XR_935055.2:n.3603G>A
NM_015295.3:c.3414G>A MANE Select	NP_056110.2:p.Ala1138=