Canonical Allele Identifier: CA401684810

Gene: SMCHD1

Linked Data

• gnomAD v4: 18-2656143-T-G
• MyVariant Identifiers: chr18:g.2656142T>G (hg19) ; chr18:g.2656143T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2656143T>G , CM000680.2:g.2656143T>G	GRCh38
NC_000018.9:g.2656142T>G , CM000680.1:g.2656142T>G	GRCh37
NC_000018.8:g.2646142T>G	NCBI36
NG_031972.1:g.5257T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.225T>G
ENST00000688342.1:c.68T>G	ENSP00000508422.1:p.Val23Gly
ENST00000320876.11:c.68T>G MANE Select	ENSP00000326603.7:p.Val23Gly
ENST00000320876.10:c.68T>G	ENSP00000326603.6:p.Val23Gly
NM_015295.2:c.68T>G	NP_056110.2:p.Val23Gly
XM_011525642.1:c.68T>G	XP_011523944.1:p.Val23Gly
XM_011525643.1:c.68T>G	XP_011523945.1:p.Val23Gly
XM_011525646.1:c.68T>G	XP_011523948.1:p.Val23Gly
XM_011525647.1:c.68T>G	XP_011523949.1:p.Val23Gly
XR_430039.1:n.257T>G
XR_935054.1:n.257T>G
XR_935055.1:n.257T>G
XM_011525643.2:c.68T>G	XP_011523945.1:p.Val23Gly
XM_017025684.1:c.-675T>G	XP_016881173.1:n.-675T>G
XR_001753172.1:n.257T>G
XR_001753173.1:n.257T>G
XR_001753174.1:n.257T>G
XR_001753175.1:n.257T>G
XR_001753176.1:n.257T>G
XR_001753177.1:n.257T>G
XR_001753178.1:n.257T>G
XR_001753179.1:n.257T>G
XR_935055.2:n.257T>G
NM_015295.3:c.68T>G MANE Select	NP_056110.2:p.Val23Gly