Canonical Allele Identifier: CA14280217

Gene: SCNN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23371646C>T , CM000678.2:g.23371646C>T	GRCh38
NC_000016.9:g.23382967C>T , CM000678.1:g.23382967C>T	GRCh37
NC_000016.8:g.23290468C>T	NCBI36
NG_011908.1:g.74377C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000336.3:c.1045-130C>T MANE Select	NP_000327.2:n.1045-130C>T
ENST00000343070.7:c.1045-130C>T MANE Select	ENSP00000345751.2:n.1045-130C>T
NM_000336.2:c.1045-130C>T	NP_000327.2:n.1045-130C>T
ENST00000307331.9:c.1180-130C>T	ENSP00000302874.5:n.1180-130C>T
ENST00000343070.6:c.1045-130C>T	ENSP00000345751.2:n.1045-130C>T
ENST00000564275.5:c.*50-130C>T	ENSP00000457754.1:n.*50-130C>T
ENST00000566441.2:c.342-130C>T
ENST00000568085.5:c.1044+184C>T	ENSP00000455673.1:n.1044+184C>T
ENST00000568923.5:c.964-130C>T	ENSP00000456309.1:n.964-130C>T
XM_011545913.1:c.1078-130C>T	XP_011544215.1:n.1078-130C>T
XM_011545913.2:c.1078-130C>T	XP_011544215.1:n.1078-130C>T
XM_011545914.1:c.1063-130C>T	XP_011544216.1:n.1063-130C>T
XM_017023525.1:c.1102-130C>T	XP_016879014.1:n.1102-130C>T
XM_017023526.1:c.1101+184C>T	XP_016879015.1:n.1101+184C>T