Canonical Allele Identifier: CA8871630

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 260652
• ClinVar RCV Id: RCV000247015 ; RCV001660327 ; RCV001808711 ; RCV002058261
• dbSNP Id: rs300291
• ExAC: 18:2771516 G / T
• gnomAD v2: 18-2771516-G-T
• gnomAD v3: 18-2771518-G-T
• gnomAD v4: 18-2771518-G-T
• MyVariant Identifiers: chr18:g.2771516G>T (hg19) ; chr18:g.2771518G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2771518G>T , CM000680.2:g.2771518G>T	GRCh38
NC_000018.9:g.2771516G>T , CM000680.1:g.2771516G>T	GRCh37
NC_000018.8:g.2761516G>T	NCBI36
NG_031972.1:g.120631G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583344.2:n.872-15G>T
ENST00000685656.1:n.1455-15G>T
ENST00000686763.1:c.*526-15G>T	ENSP00000510263.1:n.*526-15G>T
ENST00000686864.1:c.1729-15G>T
ENST00000688342.1:c.4835-15G>T	ENSP00000508422.1:n.4835-15G>T
ENST00000688708.1:n.3696-15G>T
ENST00000688964.1:n.1667-15G>T
ENST00000689034.1:n.2914-15G>T
ENST00000693213.1:n.4165-15G>T
ENST00000693522.1:n.1508-15G>T
ENST00000320876.11:c.4967-15G>T MANE Select	ENSP00000326603.7:n.4967-15G>T
ENST00000645355.1:c.1012-15G>T
ENST00000320876.10:c.4967-15G>T	ENSP00000326603.6:n.4967-15G>T
ENST00000577880.5:c.3380-15G>T	ENSP00000463049.1:n.3380-15G>T
ENST00000584897.5:c.2787-15G>T
NM_015295.2:c.4967-15G>T	NP_056110.2:n.4967-15G>T
XM_011525642.1:c.4967-15G>T	XP_011523944.1:n.4967-15G>T
XM_011525643.1:c.4967-15G>T	XP_011523945.1:n.4967-15G>T
XM_011525644.1:c.4583-15G>T	XP_011523946.1:n.4583-15G>T
XM_011525645.1:c.4403-15G>T	XP_011523947.1:n.4403-15G>T
XR_430039.1:n.5156-15G>T
XR_935054.1:n.5156-15G>T
XR_935055.1:n.5156-15G>T
XM_011525643.2:c.4967-15G>T	XP_011523945.1:n.4967-15G>T
XM_017025684.1:c.4403-15G>T	XP_016881173.1:n.4403-15G>T
XR_001753172.1:n.5156-15G>T
XR_001753173.1:n.5156-15G>T
XR_001753174.1:n.5156-15G>T
XR_001753175.1:n.5156-15G>T
XR_001753176.1:n.5156-15G>T
XR_001753177.1:n.5068-15G>T
XR_001753178.1:n.5076-15G>T
XR_001753179.1:n.4988-15G>T
XR_935055.2:n.5156-15G>T
NM_015295.3:c.4967-15G>T MANE Select	NP_056110.2:n.4967-15G>T