Canonical Allele Identifier: CA401688335

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 431464
• ClinVar RCV Id: RCV000497003
• dbSNP Id: rs1057519641
• gnomAD v4: 18-2667030-G-T
• MyVariant Identifiers: chr18:g.2667029G>T (hg19) ; chr18:g.2667030G>T (hg38)
• PubMed: PMID:28067909

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2667030G>T , CM000680.2:g.2667030G>T	GRCh38
NC_000018.9:g.2667029G>T , CM000680.1:g.2667029G>T	GRCh37
NC_000018.8:g.2657029G>T	NCBI36
NG_031972.1:g.16144G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684915.1:n.580G>T
ENST00000688342.1:c.423G>T	ENSP00000508422.1:p.Leu141Phe
ENST00000320876.11:c.423G>T MANE Select	ENSP00000326603.7:p.Leu141Phe
ENST00000320876.10:c.423G>T	ENSP00000326603.6:p.Leu141Phe
NM_015295.2:c.423G>T	NP_056110.2:p.Leu141Phe
XM_011525642.1:c.423G>T	XP_011523944.1:p.Leu141Phe
XM_011525643.1:c.423G>T	XP_011523945.1:p.Leu141Phe
XM_011525644.1:c.39G>T	XP_011523946.1:p.Leu13Phe
XM_011525645.1:c.-320G>T	XP_011523947.1:n.-320G>T
XM_011525646.1:c.423G>T	XP_011523948.1:p.Leu141Phe
XM_011525647.1:c.423G>T	XP_011523949.1:p.Leu141Phe
XR_430039.1:n.612G>T
XR_935054.1:n.612G>T
XR_935055.1:n.612G>T
XM_011525643.2:c.423G>T	XP_011523945.1:p.Leu141Phe
XM_017025684.1:c.-320G>T	XP_016881173.1:n.-320G>T
XR_001753172.1:n.612G>T
XR_001753173.1:n.612G>T
XR_001753174.1:n.612G>T
XR_001753175.1:n.612G>T
XR_001753176.1:n.612G>T
XR_001753177.1:n.612G>T
XR_001753178.1:n.612G>T
XR_001753179.1:n.612G>T
XR_935055.2:n.612G>T
NM_015295.3:c.423G>T MANE Select	NP_056110.2:p.Leu141Phe