Canonical Allele Identifier: CA401678051

Gene: SMCHD1

Linked Data

• gnomAD v4: 18-2703710-G-C
• MyVariant Identifiers: chr18:g.2703708G>C (hg19) ; chr18:g.2703710G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2703710G>C , CM000680.2:g.2703710G>C	GRCh38
NC_000018.9:g.2703708G>C , CM000680.1:g.2703708G>C	GRCh37
NC_000018.8:g.2693708G>C	NCBI36
NG_031972.1:g.52823G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1823G>C
ENST00000688342.1:c.1666G>C	ENSP00000508422.1:p.Asp556His
ENST00000693213.1:n.944G>C
ENST00000320876.11:c.1666G>C MANE Select	ENSP00000326603.7:p.Asp556His
ENST00000320876.10:c.1666G>C	ENSP00000326603.6:p.Asp556His
ENST00000577300.1:n.17G>C
ENST00000577880.5:c.79G>C	ENSP00000463049.1:p.Asp27His
NM_015295.2:c.1666G>C	NP_056110.2:p.Asp556His
XM_011525642.1:c.1666G>C	XP_011523944.1:p.Asp556His
XM_011525643.1:c.1666G>C	XP_011523945.1:p.Asp556His
XM_011525644.1:c.1282G>C	XP_011523946.1:p.Asp428His
XM_011525645.1:c.1102G>C	XP_011523947.1:p.Asp368His
XM_011525646.1:c.1666G>C	XP_011523948.1:p.Asp556His
XM_011525647.1:c.1666G>C	XP_011523949.1:p.Asp556His
XR_430039.1:n.1855G>C
XR_935054.1:n.1855G>C
XR_935055.1:n.1855G>C
XM_011525643.2:c.1666G>C	XP_011523945.1:p.Asp556His
XM_017025684.1:c.1102G>C	XP_016881173.1:p.Asp368His
XR_001753172.1:n.1855G>C
XR_001753173.1:n.1855G>C
XR_001753174.1:n.1855G>C
XR_001753175.1:n.1855G>C
XR_001753176.1:n.1855G>C
XR_001753177.1:n.1855G>C
XR_001753178.1:n.1855G>C
XR_001753179.1:n.1855G>C
XR_935055.2:n.1855G>C
NM_015295.3:c.1666G>C MANE Select	NP_056110.2:p.Asp556His