Canonical Allele Identifier: CA279484827

Gene: SCNN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23371588G>C , CM000678.2:g.23371588G>C	GRCh38
NC_000016.9:g.23382909G>C , CM000678.1:g.23382909G>C	GRCh37
NC_000016.8:g.23290410G>C	NCBI36
NG_011908.1:g.74319G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000336.3:c.1044+126G>C MANE Select	NP_000327.2:n.1044+126G>C
ENST00000343070.7:c.1044+126G>C MANE Select	ENSP00000345751.2:n.1044+126G>C
NM_000336.2:c.1044+126G>C	NP_000327.2:n.1044+126G>C
ENST00000307331.9:c.1179+126G>C	ENSP00000302874.5:n.1179+126G>C
ENST00000343070.6:c.1044+126G>C	ENSP00000345751.2:n.1044+126G>C
ENST00000564275.5:c.*49+126G>C	ENSP00000457754.1:n.*49+126G>C
ENST00000566441.2:c.341+126G>C
ENST00000568085.5:c.1044+126G>C	ENSP00000455673.1:n.1044+126G>C
ENST00000568923.5:c.963+126G>C	ENSP00000456309.1:n.963+126G>C
XM_011545913.1:c.1077+126G>C	XP_011544215.1:n.1077+126G>C
XM_011545913.2:c.1077+126G>C	XP_011544215.1:n.1077+126G>C
XM_011545914.1:c.1062+126G>C	XP_011544216.1:n.1062+126G>C
XM_017023525.1:c.1101+126G>C	XP_016879014.1:n.1101+126G>C
XM_017023526.1:c.1101+126G>C	XP_016879015.1:n.1101+126G>C