Canonical Allele Identifier: CA2213298260
Community Standard Title: NM_000336.3(SCNN1B):c.109G= (p.Gly37=)
Gene: SCNN1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23348708G= , CM000678.2:g.23348708G= GRCh38
NC_000016.9:g.23360029G= , CM000678.1:g.23360029G= GRCh37
NC_000016.8:g.23267530G= NCBI36
NG_011908.1:g.51439G=

Transcript Alleles

HGVS Amino-acid Change
NM_000336.3:c.109G= MANE Select NP_000327.2:p.Gly37=
ENST00000343070.7:c.109G= MANE Select ENSP00000345751.2:p.Gly37=
NM_000336.2:c.109G= NP_000327.2:p.Gly37=
ENST00000307331.9:c.244G= ENSP00000302874.5:p.Gly82=
ENST00000343070.6:c.109G= ENSP00000345751.2:p.Gly37=
ENST00000564275.5:c.109G= ENSP00000457754.1:p.Gly37=
ENST00000568085.5:c.109G= ENSP00000455673.1:p.Gly37=
ENST00000568923.5:c.109G= ENSP00000456309.1:p.Gly37=
ENST00000569789.1:n.295G=
XM_011545913.1:c.142G= XP_011544215.1:p.Gly48=
XM_011545913.2:c.142G= XP_011544215.1:p.Gly48=
XM_011545914.1:c.127G= XP_011544216.1:p.Gly43=
XM_017023525.1:c.166G= XP_016879014.1:p.Gly56=
XM_017023526.1:c.166G= XP_016879015.1:p.Gly56=