Canonical Allele Identifier: CA2213314932

Gene: SCNN1B

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000336.3:c.1853C= MANE Select	NP_000327.2:p.Pro618=
ENST00000343070.7:c.1853C= MANE Select	ENSP00000345751.2:p.Pro618=
NM_000336.2:c.1853C=	NP_000327.2:p.Pro618=
ENST00000307331.9:c.1988C=	ENSP00000302874.5:p.Pro663=
ENST00000343070.6:c.1853C=	ENSP00000345751.2:p.Pro618=
ENST00000564275.5:c.*858C=	ENSP00000457754.1:n.*858C=
ENST00000568085.5:c.1745C=	ENSP00000455673.1:p.Pro582=
ENST00000568923.5:c.1772C=	ENSP00000456309.1:p.Pro591=
XM_011545913.1:c.1886C=	XP_011544215.1:p.Pro629=
XM_011545913.2:c.1886C=	XP_011544215.1:p.Pro629=
XM_011545914.1:c.1871C=	XP_011544216.1:p.Pro624=
XM_017023525.1:c.1910C=	XP_016879014.1:p.Pro637=
XM_017023526.1:c.1802C=	XP_016879015.1:p.Pro601=