Canonical Allele Identifier: CA16602278
Gene: SMCHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 375763
dbSNP Id: rs1057519642

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.2697898A>T , CM000680.2:g.2697898A>T GRCh38
NC_000018.9:g.2697896A>T , CM000680.1:g.2697896A>T GRCh37
NC_000018.8:g.2687896A>T NCBI36
NG_031972.1:g.47011A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000684915.1:n.1356A>T
ENST00000688342.1:c.1199A>T ENSP00000508422.1:p.Gln400Leu
ENST00000693213.1:n.477A>T
ENST00000320876.11:c.1199A>T MANE Select ENSP00000326603.7:p.Gln400Leu
ENST00000320876.10:c.1199A>T ENSP00000326603.6:p.Gln400Leu
NM_015295.2:c.1199A>T NP_056110.2:p.Gln400Leu
XM_011525642.1:c.1199A>T XP_011523944.1:p.Gln400Leu
XM_011525643.1:c.1199A>T XP_011523945.1:p.Gln400Leu
XM_011525644.1:c.815A>T XP_011523946.1:p.Gln272Leu
XM_011525645.1:c.635A>T XP_011523947.1:p.Gln212Leu
XM_011525646.1:c.1199A>T XP_011523948.1:p.Gln400Leu
XM_011525647.1:c.1199A>T XP_011523949.1:p.Gln400Leu
XR_430039.1:n.1388A>T
XR_935054.1:n.1388A>T
XR_935055.1:n.1388A>T
XM_011525643.2:c.1199A>T XP_011523945.1:p.Gln400Leu
XM_017025684.1:c.635A>T XP_016881173.1:p.Gln212Leu
XR_001753172.1:n.1388A>T
XR_001753173.1:n.1388A>T
XR_001753174.1:n.1388A>T
XR_001753175.1:n.1388A>T
XR_001753176.1:n.1388A>T
XR_001753177.1:n.1388A>T
XR_001753178.1:n.1388A>T
XR_001753179.1:n.1388A>T
XR_935055.2:n.1388A>T
NM_015295.3:c.1199A>T MANE Select NP_056110.2:p.Gln400Leu