Canonical Allele Identifier: CA395113027

Gene: SCNN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23348683G>A , CM000678.2:g.23348683G>A	GRCh38
NC_000016.9:g.23360004G>A , CM000678.1:g.23360004G>A	GRCh37
NC_000016.8:g.23267505G>A	NCBI36
NG_011908.1:g.51414G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000336.3:c.84G>A MANE Select	NP_000327.2:p.Trp28Ter
ENST00000343070.7:c.84G>A MANE Select	ENSP00000345751.2:p.Trp28Ter
NM_000336.2:c.84G>A	NP_000327.2:p.Trp28Ter
ENST00000307331.9:c.219G>A	ENSP00000302874.5:p.Trp73Ter
ENST00000343070.6:c.84G>A	ENSP00000345751.2:p.Trp28Ter
ENST00000564275.5:c.84G>A	ENSP00000457754.1:p.Trp28Ter
ENST00000568085.5:c.84G>A	ENSP00000455673.1:p.Trp28Ter
ENST00000568923.5:c.84G>A	ENSP00000456309.1:p.Trp28Ter
ENST00000569789.1:n.270G>A
XM_011545913.1:c.117G>A	XP_011544215.1:p.Trp39Ter
XM_011545913.2:c.117G>A	XP_011544215.1:p.Trp39Ter
XM_011545914.1:c.102G>A	XP_011544216.1:p.Trp34Ter
XM_017023525.1:c.141G>A	XP_016879014.1:p.Trp47Ter
XM_017023526.1:c.141G>A	XP_016879015.1:p.Trp47Ter