Canonical Allele Identifier: CA401696987

Gene: SMCHD1

Linked Data

• dbSNP Id: rs2074317387
• gnomAD v4: 18-2697868-T-C
• MyVariant Identifiers: chr18:g.2697866T>C (hg19) ; chr18:g.2697868T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2697868T>C , CM000680.2:g.2697868T>C	GRCh38
NC_000018.9:g.2697866T>C , CM000680.1:g.2697866T>C	GRCh37
NC_000018.8:g.2687866T>C	NCBI36
NG_031972.1:g.46981T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1326T>C
ENST00000688342.1:c.1169T>C	ENSP00000508422.1:p.Val390Ala
ENST00000693213.1:n.447T>C
ENST00000320876.11:c.1169T>C MANE Select	ENSP00000326603.7:p.Val390Ala
ENST00000320876.10:c.1169T>C	ENSP00000326603.6:p.Val390Ala
NM_015295.2:c.1169T>C	NP_056110.2:p.Val390Ala
XM_011525642.1:c.1169T>C	XP_011523944.1:p.Val390Ala
XM_011525643.1:c.1169T>C	XP_011523945.1:p.Val390Ala
XM_011525644.1:c.785T>C	XP_011523946.1:p.Val262Ala
XM_011525645.1:c.605T>C	XP_011523947.1:p.Val202Ala
XM_011525646.1:c.1169T>C	XP_011523948.1:p.Val390Ala
XM_011525647.1:c.1169T>C	XP_011523949.1:p.Val390Ala
XR_430039.1:n.1358T>C
XR_935054.1:n.1358T>C
XR_935055.1:n.1358T>C
XM_011525643.2:c.1169T>C	XP_011523945.1:p.Val390Ala
XM_017025684.1:c.605T>C	XP_016881173.1:p.Val202Ala
XR_001753172.1:n.1358T>C
XR_001753173.1:n.1358T>C
XR_001753174.1:n.1358T>C
XR_001753175.1:n.1358T>C
XR_001753176.1:n.1358T>C
XR_001753177.1:n.1358T>C
XR_001753178.1:n.1358T>C
XR_001753179.1:n.1358T>C
XR_935055.2:n.1358T>C
NM_015295.3:c.1169T>C MANE Select	NP_056110.2:p.Val390Ala