Canonical Allele Identifier: CA2213305687

Gene: SCNN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23367879C= , CM000678.2:g.23367879C=	GRCh38
NC_000016.9:g.23379200C= , CM000678.1:g.23379200C=	GRCh37
NC_000016.8:g.23286701C=	NCBI36
NG_011908.1:g.70610C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000336.3:c.800C= MANE Select	NP_000327.2:p.Pro267=
ENST00000343070.7:c.800C= MANE Select	ENSP00000345751.2:p.Pro267=
NM_000336.2:c.800C=	NP_000327.2:p.Pro267=
ENST00000307331.9:c.935C=	ENSP00000302874.5:p.Pro312=
ENST00000343070.6:c.800C=	ENSP00000345751.2:p.Pro267=
ENST00000564275.5:c.777-3420C=	ENSP00000457754.1:n.777-3420C=
ENST00000566441.2:c.97C=
ENST00000568085.5:c.800C=	ENSP00000455673.1:p.Pro267=
ENST00000568923.5:c.719C=	ENSP00000456309.1:p.Pro240=
XM_011545913.1:c.833C=	XP_011544215.1:p.Pro278=
XM_011545913.2:c.833C=	XP_011544215.1:p.Pro278=
XM_011545914.1:c.818C=	XP_011544216.1:p.Pro273=
XM_017023525.1:c.857C=	XP_016879014.1:p.Pro286=
XM_017023526.1:c.857C=	XP_016879015.1:p.Pro286=