Canonical Allele Identifier: CA395108937

Gene: SCNN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23367959G>T , CM000678.2:g.23367959G>T	GRCh38
NC_000016.9:g.23379280G>T , CM000678.1:g.23379280G>T	GRCh37
NC_000016.8:g.23286781G>T	NCBI36
NG_011908.1:g.70690G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343070.7:c.880G>T MANE Select	ENSP00000345751.2:p.Gly294Cys
ENST00000307331.9:c.1015G>T	ENSP00000302874.5:p.Gly339Cys
ENST00000343070.6:c.880G>T	ENSP00000345751.2:p.Gly294Cys
ENST00000564275.5:c.777-3340G>T	ENSP00000457754.1:n.777-3340G>T
ENST00000566441.2:c.177G>T
ENST00000568085.5:c.880G>T	ENSP00000455673.1:p.Gly294Cys
ENST00000568923.5:c.799G>T	ENSP00000456309.1:p.Gly267Cys
NM_000336.2:c.880G>T	NP_000327.2:p.Gly294Cys
XM_011545913.1:c.913G>T	XP_011544215.1:p.Gly305Cys
XM_011545914.1:c.898G>T	XP_011544216.1:p.Gly300Cys
XM_011545913.2:c.913G>T	XP_011544215.1:p.Gly305Cys
XM_017023525.1:c.937G>T	XP_016879014.1:p.Gly313Cys
XM_017023526.1:c.937G>T	XP_016879015.1:p.Gly313Cys
NM_000336.3:c.880G>T MANE Select	NP_000327.2:p.Gly294Cys