Canonical Allele Identifier: CA119961

Gene: SCNN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23380727C>T , CM000678.2:g.23380727C>T	GRCh38
NC_000016.9:g.23392048C>T , CM000678.1:g.23392048C>T	GRCh37
NC_000016.8:g.23299549C>T	NCBI36
NG_011908.1:g.83458C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000336.3:c.1849C>T MANE Select	NP_000327.2:p.Pro617Ser
ENST00000343070.7:c.1849C>T MANE Select	ENSP00000345751.2:p.Pro617Ser
NM_000336.2:c.1849C>T	NP_000327.2:p.Pro617Ser
ENST00000307331.9:c.1984C>T	ENSP00000302874.5:p.Pro662Ser
ENST00000343070.6:c.1849C>T	ENSP00000345751.2:p.Pro617Ser
ENST00000564275.5:c.*854C>T	ENSP00000457754.1:n.*854C>T
ENST00000568085.5:c.1741C>T	ENSP00000455673.1:p.Pro581Ser
ENST00000568923.5:c.1768C>T	ENSP00000456309.1:p.Pro590Ser
XM_011545913.1:c.1882C>T	XP_011544215.1:p.Pro628Ser
XM_011545913.2:c.1882C>T	XP_011544215.1:p.Pro628Ser
XM_011545914.1:c.1867C>T	XP_011544216.1:p.Pro623Ser
XM_017023525.1:c.1906C>T	XP_016879014.1:p.Pro636Ser
XM_017023526.1:c.1798C>T	XP_016879015.1:p.Pro600Ser