Canonical Allele Identifier: CA8871170

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 285739
• ClinVar RCV Id: RCV000352332 ; RCV001089314 ; RCV003967747
• dbSNP Id: rs542259388
• ExAC: 18:2738390 C / T
• gnomAD v2: 18-2738390-C-T
• gnomAD v3: 18-2738392-C-T
• gnomAD v4: 18-2738392-C-T
• MyVariant Identifiers: chr18:g.2738390C>T (hg19) ; chr18:g.2738392C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2738392C>T , CM000680.2:g.2738392C>T	GRCh38
NC_000018.9:g.2738390C>T , CM000680.1:g.2738390C>T	GRCh37
NC_000018.8:g.2728390C>T	NCBI36
NG_031972.1:g.87505C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583441.2:n.963-5C>T
ENST00000686763.1:c.82-5C>T	ENSP00000510263.1:n.82-5C>T
ENST00000686864.1:c.39-5C>T
ENST00000688342.1:c.3277-5C>T	ENSP00000508422.1:n.3277-5C>T
ENST00000688708.1:n.1928C>T
ENST00000690757.1:n.734-5C>T
ENST00000693213.1:n.2555-5C>T
ENST00000320876.11:c.3277-5C>T MANE Select	ENSP00000326603.7:n.3277-5C>T
ENST00000320876.10:c.3277-5C>T	ENSP00000326603.6:n.3277-5C>T
ENST00000577880.5:c.1690-5C>T	ENSP00000463049.1:n.1690-5C>T
ENST00000581631.1:n.547-5C>T
ENST00000584897.5:c.1097-5C>T
NM_015295.2:c.3277-5C>T	NP_056110.2:n.3277-5C>T
XM_011525642.1:c.3277-5C>T	XP_011523944.1:n.3277-5C>T
XM_011525643.1:c.3277-5C>T	XP_011523945.1:n.3277-5C>T
XM_011525644.1:c.2893-5C>T	XP_011523946.1:n.2893-5C>T
XM_011525645.1:c.2713-5C>T	XP_011523947.1:n.2713-5C>T
XM_011525646.1:c.3277-5C>T	XP_011523948.1:n.3277-5C>T
XM_011525647.1:c.3277-5C>T	XP_011523949.1:n.3277-5C>T
XR_430039.1:n.3466-5C>T
XR_935054.1:n.3466-5C>T
XR_935055.1:n.3466-5C>T
XM_011525643.2:c.3277-5C>T	XP_011523945.1:n.3277-5C>T
XM_017025684.1:c.2713-5C>T	XP_016881173.1:n.2713-5C>T
XR_001753172.1:n.3466-5C>T
XR_001753173.1:n.3466-5C>T
XR_001753174.1:n.3466-5C>T
XR_001753175.1:n.3466-5C>T
XR_001753176.1:n.3466-5C>T
XR_001753177.1:n.3466-5C>T
XR_001753178.1:n.3466-5C>T
XR_001753179.1:n.3466-5C>T
XR_935055.2:n.3466-5C>T
NM_015295.3:c.3277-5C>T MANE Select	NP_056110.2:n.3277-5C>T