Canonical Allele Identifier: CA119959

Gene: SCNN1B

Linked Data

• ClinVar Variation Id: 8832
• ClinVar RCV Id: RCV001120417 ; RCV001120139 ; RCV002310627 ; RCV000009380
• dbSNP Id: rs137852706
• ExAC: 16:23360029 G / A
• gnomAD v2: 16-23360029-G-A
• gnomAD v3: 16-23348708-G-A
• gnomAD v4: 16-23348708-G-A
• MyVariant Identifiers: chr16:g.23360029G>A (hg19) ; chr16:g.23348708G>A (hg38)
• PubMed: PMID:8589714 ; PMID:9118951

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23348708G>A , CM000678.2:g.23348708G>A	GRCh38
NC_000016.9:g.23360029G>A , CM000678.1:g.23360029G>A	GRCh37
NC_000016.8:g.23267530G>A	NCBI36
NG_011908.1:g.51439G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343070.7:c.109G>A MANE Select	ENSP00000345751.2:p.Gly37Ser
ENST00000307331.9:c.244G>A	ENSP00000302874.5:p.Gly82Ser
ENST00000343070.6:c.109G>A	ENSP00000345751.2:p.Gly37Ser
ENST00000564275.5:c.109G>A	ENSP00000457754.1:p.Gly37Ser
ENST00000568085.5:c.109G>A	ENSP00000455673.1:p.Gly37Ser
ENST00000568923.5:c.109G>A	ENSP00000456309.1:p.Gly37Ser
ENST00000569789.1:n.295G>A
NM_000336.2:c.109G>A	NP_000327.2:p.Gly37Ser
XM_011545913.1:c.142G>A	XP_011544215.1:p.Gly48Ser
XM_011545914.1:c.127G>A	XP_011544216.1:p.Gly43Ser
XM_011545913.2:c.142G>A	XP_011544215.1:p.Gly48Ser
XM_017023525.1:c.166G>A	XP_016879014.1:p.Gly56Ser
XM_017023526.1:c.166G>A	XP_016879015.1:p.Gly56Ser
NM_000336.3:c.109G>A MANE Select	NP_000327.2:p.Gly37Ser