Canonical Allele Identifier: CA119968

Gene: SCNN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23367942A>G , CM000678.2:g.23367942A>G	GRCh38
NC_000016.9:g.23379263A>G , CM000678.1:g.23379263A>G	GRCh37
NC_000016.8:g.23286764A>G	NCBI36
NG_011908.1:g.70673A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000336.3:c.863A>G MANE Select	NP_000327.2:p.Asn288Ser
ENST00000343070.7:c.863A>G MANE Select	ENSP00000345751.2:p.Asn288Ser
NM_000336.2:c.863A>G	NP_000327.2:p.Asn288Ser
ENST00000307331.9:c.998A>G	ENSP00000302874.5:p.Asn333Ser
ENST00000343070.6:c.863A>G	ENSP00000345751.2:p.Asn288Ser
ENST00000564275.5:c.777-3357A>G	ENSP00000457754.1:n.777-3357A>G
ENST00000566441.2:c.160A>G
ENST00000568085.5:c.863A>G	ENSP00000455673.1:p.Asn288Ser
ENST00000568923.5:c.782A>G	ENSP00000456309.1:p.Asn261Ser
XM_011545913.1:c.896A>G	XP_011544215.1:p.Asn299Ser
XM_011545913.2:c.896A>G	XP_011544215.1:p.Asn299Ser
XM_011545914.1:c.881A>G	XP_011544216.1:p.Asn294Ser
XM_017023525.1:c.920A>G	XP_016879014.1:p.Asn307Ser
XM_017023526.1:c.920A>G	XP_016879015.1:p.Asn307Ser