Canonical Allele Identifier: CA177877

Gene: SCNN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23348878T>C , CM000678.2:g.23348878T>C	GRCh38
NC_000016.9:g.23360199T>C , CM000678.1:g.23360199T>C	GRCh37
NC_000016.8:g.23267700T>C	NCBI36
NG_011908.1:g.51609T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343070.7:c.279T>C MANE Select	ENSP00000345751.2:p.Pro93=
ENST00000307331.9:c.414T>C	ENSP00000302874.5:p.Pro138=
ENST00000343070.6:c.279T>C	ENSP00000345751.2:p.Pro93=
ENST00000564275.5:c.279T>C	ENSP00000457754.1:p.Pro93=
ENST00000566870.1:n.84T>C
ENST00000568085.5:c.279T>C	ENSP00000455673.1:p.Pro93=
ENST00000568923.5:c.279T>C	ENSP00000456309.1:p.Pro93=
ENST00000569789.1:n.465T>C
NM_000336.2:c.279T>C	NP_000327.2:p.Pro93=
XM_011545913.1:c.312T>C	XP_011544215.1:p.Pro104=
XM_011545914.1:c.297T>C	XP_011544216.1:p.Pro99=
XM_011545913.2:c.312T>C	XP_011544215.1:p.Pro104=
XM_017023525.1:c.336T>C	XP_016879014.1:p.Pro112=
XM_017023526.1:c.336T>C	XP_016879015.1:p.Pro112=
NM_000336.3:c.279T>C MANE Select	NP_000327.2:p.Pro93=