Canonical Allele Identifier: CA8870431

Gene: SMCHD1

Linked Data

• dbSNP Id: rs775043440
• ExAC: 18:2656066 T / C
• gnomAD v2: 18-2656066-T-C
• gnomAD v4: 18-2656067-T-C
• MyVariant Identifiers: chr18:g.2656066T>C (hg19) ; chr18:g.2656067T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2656067T>C , CM000680.2:g.2656067T>C	GRCh38
NC_000018.9:g.2656066T>C , CM000680.1:g.2656066T>C	GRCh37
NC_000018.8:g.2646066T>C	NCBI36
NG_031972.1:g.5181T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.149T>C
ENST00000688342.1:c.-9T>C	ENSP00000508422.1:n.-9T>C
ENST00000320876.11:c.-9T>C MANE Select	ENSP00000326603.7:n.-9T>C
ENST00000320876.10:c.-9T>C	ENSP00000326603.6:n.-9T>C
NM_015295.2:c.-9T>C	NP_056110.2:n.-9T>C
XM_011525642.1:c.-9T>C	XP_011523944.1:n.-9T>C
XM_011525643.1:c.-9T>C	XP_011523945.1:n.-9T>C
XM_011525646.1:c.-9T>C	XP_011523948.1:n.-9T>C
XM_011525647.1:c.-9T>C	XP_011523949.1:n.-9T>C
XR_430039.1:n.181T>C
XR_935054.1:n.181T>C
XR_935055.1:n.181T>C
XM_011525643.2:c.-9T>C	XP_011523945.1:n.-9T>C
XM_017025684.1:c.-751T>C	XP_016881173.1:n.-751T>C
XR_001753172.1:n.181T>C
XR_001753173.1:n.181T>C
XR_001753174.1:n.181T>C
XR_001753175.1:n.181T>C
XR_001753176.1:n.181T>C
XR_001753177.1:n.181T>C
XR_001753178.1:n.181T>C
XR_001753179.1:n.181T>C
XR_935055.2:n.181T>C
NM_015295.3:c.-9T>C MANE Select	NP_056110.2:n.-9T>C