Canonical Allele Identifier: CA401684567

Gene: SMCHD1

Linked Data

• dbSNP Id: rs1209311489
• gnomAD v2: 18-2656100-C-T
• gnomAD v4: 18-2656101-C-T
• MyVariant Identifiers: chr18:g.2656100C>T (hg19) ; chr18:g.2656101C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2656101C>T , CM000680.2:g.2656101C>T	GRCh38
NC_000018.9:g.2656100C>T , CM000680.1:g.2656100C>T	GRCh37
NC_000018.8:g.2646100C>T	NCBI36
NG_031972.1:g.5215C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.183C>T
ENST00000688342.1:c.26C>T	ENSP00000508422.1:p.Pro9Leu
ENST00000320876.11:c.26C>T MANE Select	ENSP00000326603.7:p.Pro9Leu
ENST00000320876.10:c.26C>T	ENSP00000326603.6:p.Pro9Leu
NM_015295.2:c.26C>T	NP_056110.2:p.Pro9Leu
XM_011525642.1:c.26C>T	XP_011523944.1:p.Pro9Leu
XM_011525643.1:c.26C>T	XP_011523945.1:p.Pro9Leu
XM_011525646.1:c.26C>T	XP_011523948.1:p.Pro9Leu
XM_011525647.1:c.26C>T	XP_011523949.1:p.Pro9Leu
XR_430039.1:n.215C>T
XR_935054.1:n.215C>T
XR_935055.1:n.215C>T
XM_011525643.2:c.26C>T	XP_011523945.1:p.Pro9Leu
XM_017025684.1:c.-717C>T	XP_016881173.1:n.-717C>T
XR_001753172.1:n.215C>T
XR_001753173.1:n.215C>T
XR_001753174.1:n.215C>T
XR_001753175.1:n.215C>T
XR_001753176.1:n.215C>T
XR_001753177.1:n.215C>T
XR_001753178.1:n.215C>T
XR_001753179.1:n.215C>T
XR_935055.2:n.215C>T
NM_015295.3:c.26C>T MANE Select	NP_056110.2:p.Pro9Leu