Canonical Allele Identifier: CA7960598

Gene: SCNN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23380520G>A , CM000678.2:g.23380520G>A	GRCh38
NC_000016.9:g.23391841G>A , CM000678.1:g.23391841G>A	GRCh37
NC_000016.8:g.23299342G>A	NCBI36
NG_011908.1:g.83251G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000336.3:c.1642G>A MANE Select	NP_000327.2:p.Val548Met
ENST00000343070.7:c.1642G>A MANE Select	ENSP00000345751.2:p.Val548Met
NM_000336.2:c.1642G>A	NP_000327.2:p.Val548Met
ENST00000307331.9:c.1777G>A	ENSP00000302874.5:p.Val593Met
ENST00000343070.6:c.1642G>A	ENSP00000345751.2:p.Val548Met
ENST00000564275.5:c.*647G>A	ENSP00000457754.1:n.*647G>A
ENST00000568085.5:c.1534G>A	ENSP00000455673.1:p.Val512Met
ENST00000568923.5:c.1561G>A	ENSP00000456309.1:p.Val521Met
XM_011545913.1:c.1675G>A	XP_011544215.1:p.Val559Met
XM_011545913.2:c.1675G>A	XP_011544215.1:p.Val559Met
XM_011545914.1:c.1660G>A	XP_011544216.1:p.Val554Met
XM_017023525.1:c.1699G>A	XP_016879014.1:p.Val567Met
XM_017023526.1:c.1591G>A	XP_016879015.1:p.Val531Met