Canonical Allele Identifier: CA279484693

Gene: SCNN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23371361G>A , CM000678.2:g.23371361G>A	GRCh38
NC_000016.9:g.23382682G>A , CM000678.1:g.23382682G>A	GRCh37
NC_000016.8:g.23290183G>A	NCBI36
NG_011908.1:g.74092G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000336.3:c.943G>A MANE Select	NP_000327.2:p.Gly315Arg
ENST00000343070.7:c.943G>A MANE Select	ENSP00000345751.2:p.Gly315Arg
NM_000336.2:c.943G>A	NP_000327.2:p.Gly315Arg
ENST00000307331.9:c.1078G>A	ENSP00000302874.5:p.Gly360Arg
ENST00000343070.6:c.943G>A	ENSP00000345751.2:p.Gly315Arg
ENST00000564275.5:c.839G>A	ENSP00000457754.1:p.Arg280Gln
ENST00000566441.2:c.240G>A
ENST00000568085.5:c.943G>A	ENSP00000455673.1:p.Gly315Arg
ENST00000568923.5:c.862G>A	ENSP00000456309.1:p.Gly288Arg
XM_011545913.1:c.976G>A	XP_011544215.1:p.Gly326Arg
XM_011545913.2:c.976G>A	XP_011544215.1:p.Gly326Arg
XM_011545914.1:c.961G>A	XP_011544216.1:p.Gly321Arg
XM_017023525.1:c.1000G>A	XP_016879014.1:p.Gly334Arg
XM_017023526.1:c.1000G>A	XP_016879015.1:p.Gly334Arg