Canonical Allele Identifier: CA119969

Gene: SCNN1B

Linked Data

• ClinVar Variation Id: 8844
• ClinVar RCV Id: RCV000009392 ; RCV000175586 ; RCV000713389 ; RCV001120418 ; RCV001120419 ; RCV003914823
• dbSNP Id: rs35731153
• ExAC: 16:23360165 C / G
• gnomAD v2: 16-23360165-C-G
• gnomAD v3: 16-23348844-C-G
• gnomAD v4: 16-23348844-C-G
• MyVariant Identifiers: chr16:g.23360165C>G (hg19) ; chr16:g.23348844C>G (hg38)
• PubMed: PMID:16207733 ; PMID:18507830 ; PMID:19462466 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23348844C>G , CM000678.2:g.23348844C>G	GRCh38
NC_000016.9:g.23360165C>G , CM000678.1:g.23360165C>G	GRCh37
NC_000016.8:g.23267666C>G	NCBI36
NG_011908.1:g.51575C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343070.7:c.245C>G MANE Select	ENSP00000345751.2:p.Ser82Cys
ENST00000307331.9:c.380C>G	ENSP00000302874.5:p.Ser127Cys
ENST00000343070.6:c.245C>G	ENSP00000345751.2:p.Ser82Cys
ENST00000564275.5:c.245C>G	ENSP00000457754.1:p.Ser82Cys
ENST00000566870.1:n.50C>G
ENST00000568085.5:c.245C>G	ENSP00000455673.1:p.Ser82Cys
ENST00000568923.5:c.245C>G	ENSP00000456309.1:p.Ser82Cys
ENST00000569789.1:n.431C>G
NM_000336.2:c.245C>G	NP_000327.2:p.Ser82Cys
XM_011545913.1:c.278C>G	XP_011544215.1:p.Ser93Cys
XM_011545914.1:c.263C>G	XP_011544216.1:p.Ser88Cys
XM_011545913.2:c.278C>G	XP_011544215.1:p.Ser93Cys
XM_017023525.1:c.302C>G	XP_016879014.1:p.Ser101Cys
XM_017023526.1:c.302C>G	XP_016879015.1:p.Ser101Cys
NM_000336.3:c.245C>G MANE Select	NP_000327.2:p.Ser82Cys