Canonical Allele Identifier: CA7960613

Gene: SCNN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23380574C>G , CM000678.2:g.23380574C>G	GRCh38
NC_000016.9:g.23391895C>G , CM000678.1:g.23391895C>G	GRCh37
NC_000016.8:g.23299396C>G	NCBI36
NG_011908.1:g.83305C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000336.3:c.1696C>G MANE Select	NP_000327.2:p.Arg566Gly
ENST00000343070.7:c.1696C>G MANE Select	ENSP00000345751.2:p.Arg566Gly
NM_000336.2:c.1696C>G	NP_000327.2:p.Arg566Gly
ENST00000307331.9:c.1831C>G	ENSP00000302874.5:p.Arg611Gly
ENST00000343070.6:c.1696C>G	ENSP00000345751.2:p.Arg566Gly
ENST00000564275.5:c.*701C>G	ENSP00000457754.1:n.*701C>G
ENST00000568085.5:c.1588C>G	ENSP00000455673.1:p.Arg530Gly
ENST00000568923.5:c.1615C>G	ENSP00000456309.1:p.Arg539Gly
XM_011545913.1:c.1729C>G	XP_011544215.1:p.Arg577Gly
XM_011545913.2:c.1729C>G	XP_011544215.1:p.Arg577Gly
XM_011545914.1:c.1714C>G	XP_011544216.1:p.Arg572Gly
XM_017023525.1:c.1753C>G	XP_016879014.1:p.Arg585Gly
XM_017023526.1:c.1645C>G	XP_016879015.1:p.Arg549Gly