Canonical Allele Identifier: CA279490697

Gene: SCNN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23380170G>A , CM000678.2:g.23380170G>A	GRCh38
NC_000016.9:g.23391491G>A , CM000678.1:g.23391491G>A	GRCh37
NC_000016.8:g.23298992G>A	NCBI36
NG_011908.1:g.82901G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343070.7:c.1542+1G>A MANE Select	ENSP00000345751.2:n.1542+1G>A
ENST00000307331.9:c.1677+1G>A	ENSP00000302874.5:n.1677+1G>A
ENST00000343070.6:c.1542+1G>A	ENSP00000345751.2:n.1542+1G>A
ENST00000564275.5:c.*547+1G>A	ENSP00000457754.1:n.*547+1G>A
ENST00000568085.5:c.1434+1G>A	ENSP00000455673.1:n.1434+1G>A
ENST00000568923.5:c.1461+1G>A	ENSP00000456309.1:n.1461+1G>A
NM_000336.2:c.1542+1G>A	NP_000327.2:n.1542+1G>A
XM_011545913.1:c.1575+1G>A	XP_011544215.1:n.1575+1G>A
XM_011545914.1:c.1560+1G>A	XP_011544216.1:n.1560+1G>A
XM_011545913.2:c.1575+1G>A	XP_011544215.1:n.1575+1G>A
XM_017023525.1:c.1599+1G>A	XP_016879014.1:n.1599+1G>A
XM_017023526.1:c.1491+1G>A	XP_016879015.1:n.1491+1G>A
NM_000336.3:c.1542+1G>A MANE Select	NP_000327.2:n.1542+1G>A