Canonical Allele Identifier: CA279491246

Gene: SCNN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23380565C>T , CM000678.2:g.23380565C>T	GRCh38
NC_000016.9:g.23391886C>T , CM000678.1:g.23391886C>T	GRCh37
NC_000016.8:g.23299387C>T	NCBI36
NG_011908.1:g.83296C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000336.3:c.1687C>T MANE Select	NP_000327.2:p.Arg563Trp
ENST00000343070.7:c.1687C>T MANE Select	ENSP00000345751.2:p.Arg563Trp
NM_000336.2:c.1687C>T	NP_000327.2:p.Arg563Trp
ENST00000307331.9:c.1822C>T	ENSP00000302874.5:p.Arg608Trp
ENST00000343070.6:c.1687C>T	ENSP00000345751.2:p.Arg563Trp
ENST00000564275.5:c.*692C>T	ENSP00000457754.1:n.*692C>T
ENST00000568085.5:c.1579C>T	ENSP00000455673.1:p.Arg527Trp
ENST00000568923.5:c.1606C>T	ENSP00000456309.1:p.Arg536Trp
XM_011545913.1:c.1720C>T	XP_011544215.1:p.Arg574Trp
XM_011545913.2:c.1720C>T	XP_011544215.1:p.Arg574Trp
XM_011545914.1:c.1705C>T	XP_011544216.1:p.Arg569Trp
XM_017023525.1:c.1744C>T	XP_016879014.1:p.Arg582Trp
XM_017023526.1:c.1636C>T	XP_016879015.1:p.Arg546Trp