Canonical Allele Identifier: CA395109859

Gene: SCNN1B

Linked Data

• ClinVar Variation Id: 488409
• ClinVar RCV Id: RCV000578168
• dbSNP Id: rs1182475940
• MyVariant Identifiers: chr16:g.23383126C>A (hg19) ; chr16:g.23371805C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23371805C>A , CM000678.2:g.23371805C>A	GRCh38
NC_000016.9:g.23383126C>A , CM000678.1:g.23383126C>A	GRCh37
NC_000016.8:g.23290627C>A	NCBI36
NG_011908.1:g.74536C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343070.7:c.1074C>A MANE Select	ENSP00000345751.2:p.Tyr358Ter
ENST00000307331.9:c.1209C>A	ENSP00000302874.5:p.Tyr403Ter
ENST00000343070.6:c.1074C>A	ENSP00000345751.2:p.Tyr358Ter
ENST00000564275.5:c.*79C>A	ENSP00000457754.1:n.*79C>A
ENST00000566441.2:c.371C>A
ENST00000568085.5:c.1044+343C>A	ENSP00000455673.1:n.1044+343C>A
ENST00000568923.5:c.993C>A	ENSP00000456309.1:p.Tyr331Ter
NM_000336.2:c.1074C>A	NP_000327.2:p.Tyr358Ter
XM_011545913.1:c.1107C>A	XP_011544215.1:p.Tyr369Ter
XM_011545914.1:c.1092C>A	XP_011544216.1:p.Tyr364Ter
XM_011545913.2:c.1107C>A	XP_011544215.1:p.Tyr369Ter
XM_017023525.1:c.1131C>A	XP_016879014.1:p.Tyr377Ter
XM_017023526.1:c.1101+343C>A	XP_016879015.1:n.1101+343C>A
NM_000336.3:c.1074C>A MANE Select	NP_000327.2:p.Tyr358Ter