Canonical Allele Identifier: CA7960664

Gene: SCNN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23380748C>T , CM000678.2:g.23380748C>T	GRCh38
NC_000016.9:g.23392069C>T , CM000678.1:g.23392069C>T	GRCh37
NC_000016.8:g.23299570C>T	NCBI36
NG_011908.1:g.83479C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000336.3:c.1870C>T MANE Select	NP_000327.2:p.Arg624Cys
ENST00000343070.7:c.1870C>T MANE Select	ENSP00000345751.2:p.Arg624Cys
NM_000336.2:c.1870C>T	NP_000327.2:p.Arg624Cys
ENST00000307331.9:c.2005C>T	ENSP00000302874.5:p.Arg669Cys
ENST00000343070.6:c.1870C>T	ENSP00000345751.2:p.Arg624Cys
ENST00000564275.5:c.*875C>T	ENSP00000457754.1:n.*875C>T
ENST00000568085.5:c.1762C>T	ENSP00000455673.1:p.Arg588Cys
ENST00000568923.5:c.1789C>T	ENSP00000456309.1:p.Arg597Cys
XM_011545913.1:c.1903C>T	XP_011544215.1:p.Arg635Cys
XM_011545913.2:c.1903C>T	XP_011544215.1:p.Arg635Cys
XM_011545914.1:c.1888C>T	XP_011544216.1:p.Arg630Cys
XM_017023525.1:c.1927C>T	XP_016879014.1:p.Arg643Cys
XM_017023526.1:c.1819C>T	XP_016879015.1:p.Arg607Cys