Canonical Allele Identifier: CA2213314938

Gene: SCNN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23380736T= , CM000678.2:g.23380736T=	GRCh38
NC_000016.9:g.23392057T= , CM000678.1:g.23392057T=	GRCh37
NC_000016.8:g.23299558T=	NCBI36
NG_011908.1:g.83467T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000336.3:c.1858T= MANE Select	NP_000327.2:p.Tyr620=
ENST00000343070.7:c.1858T= MANE Select	ENSP00000345751.2:p.Tyr620=
NM_000336.2:c.1858T=	NP_000327.2:p.Tyr620=
ENST00000307331.9:c.1993T=	ENSP00000302874.5:p.Tyr665=
ENST00000343070.6:c.1858T=	ENSP00000345751.2:p.Tyr620=
ENST00000564275.5:c.*863T=	ENSP00000457754.1:n.*863T=
ENST00000568085.5:c.1750T=	ENSP00000455673.1:p.Tyr584=
ENST00000568923.5:c.1777T=	ENSP00000456309.1:p.Tyr593=
XM_011545913.1:c.1891T=	XP_011544215.1:p.Tyr631=
XM_011545913.2:c.1891T=	XP_011544215.1:p.Tyr631=
XM_011545914.1:c.1876T=	XP_011544216.1:p.Tyr626=
XM_017023525.1:c.1915T=	XP_016879014.1:p.Tyr639=
XM_017023526.1:c.1807T=	XP_016879015.1:p.Tyr603=