Canonical Allele Identifier: CA119967

Gene: SCNN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23371836C>A , CM000678.2:g.23371836C>A	GRCh38
NC_000016.9:g.23383157C>A , CM000678.1:g.23383157C>A	GRCh37
NC_000016.8:g.23290658C>A	NCBI36
NG_011908.1:g.74567C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000336.3:c.1105C>A MANE Select	NP_000327.2:p.Pro369Thr
ENST00000343070.7:c.1105C>A MANE Select	ENSP00000345751.2:p.Pro369Thr
NM_000336.2:c.1105C>A	NP_000327.2:p.Pro369Thr
ENST00000307331.9:c.1240C>A	ENSP00000302874.5:p.Pro414Thr
ENST00000343070.6:c.1105C>A	ENSP00000345751.2:p.Pro369Thr
ENST00000564275.5:c.*110C>A	ENSP00000457754.1:n.*110C>A
ENST00000566441.2:c.402C>A
ENST00000568085.5:c.1044+374C>A	ENSP00000455673.1:n.1044+374C>A
ENST00000568923.5:c.1024C>A	ENSP00000456309.1:p.Pro342Thr
XM_011545913.1:c.1138C>A	XP_011544215.1:p.Pro380Thr
XM_011545913.2:c.1138C>A	XP_011544215.1:p.Pro380Thr
XM_011545914.1:c.1123C>A	XP_011544216.1:p.Pro375Thr
XM_017023525.1:c.1162C>A	XP_016879014.1:p.Pro388Thr
XM_017023526.1:c.1101+374C>A	XP_016879015.1:n.1101+374C>A