Canonical Allele Identifier: CA279491638

Gene: SCNN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23380731C>T , CM000678.2:g.23380731C>T	GRCh38
NC_000016.9:g.23392052C>T , CM000678.1:g.23392052C>T	GRCh37
NC_000016.8:g.23299553C>T	NCBI36
NG_011908.1:g.83462C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000336.3:c.1853C>T MANE Select	NP_000327.2:p.Pro618Leu
ENST00000343070.7:c.1853C>T MANE Select	ENSP00000345751.2:p.Pro618Leu
NM_000336.2:c.1853C>T	NP_000327.2:p.Pro618Leu
ENST00000307331.9:c.1988C>T	ENSP00000302874.5:p.Pro663Leu
ENST00000343070.6:c.1853C>T	ENSP00000345751.2:p.Pro618Leu
ENST00000564275.5:c.*858C>T	ENSP00000457754.1:n.*858C>T
ENST00000568085.5:c.1745C>T	ENSP00000455673.1:p.Pro582Leu
ENST00000568923.5:c.1772C>T	ENSP00000456309.1:p.Pro591Leu
XM_011545913.1:c.1886C>T	XP_011544215.1:p.Pro629Leu
XM_011545913.2:c.1886C>T	XP_011544215.1:p.Pro629Leu
XM_011545914.1:c.1871C>T	XP_011544216.1:p.Pro624Leu
XM_017023525.1:c.1910C>T	XP_016879014.1:p.Pro637Leu
XM_017023526.1:c.1802C>T	XP_016879015.1:p.Pro601Leu