Canonical Allele Identifier: CA7960676

Gene: SCNN1B

Linked Data

• ClinVar Variation Id: 499404
• ClinVar RCV Id: RCV000594991 ; RCV003317295 ; RCV002506417
• dbSNP Id: rs13306629
• ExAC: 16:23392103 G / A
• gnomAD v2: 16-23392103-G-A
• gnomAD v3: 16-23380782-G-A
• gnomAD v4: 16-23380782-G-A
• COSMIC: COSM5461571 ; COSM5461572
• MyVariant Identifiers: chr16:g.23392103G>A (hg19) ; chr16:g.23380782G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23380782G>A , CM000678.2:g.23380782G>A	GRCh38
NC_000016.9:g.23392103G>A , CM000678.1:g.23392103G>A	GRCh37
NC_000016.8:g.23299604G>A	NCBI36
NG_011908.1:g.83513G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343070.7:c.1904G>A MANE Select	ENSP00000345751.2:p.Ser635Asn
ENST00000307331.9:c.2039G>A	ENSP00000302874.5:p.Ser680Asn
ENST00000343070.6:c.1904G>A	ENSP00000345751.2:p.Ser635Asn
ENST00000564275.5:c.*909G>A	ENSP00000457754.1:n.*909G>A
ENST00000568085.5:c.1796G>A	ENSP00000455673.1:p.Ser599Asn
ENST00000568923.5:c.1823G>A	ENSP00000456309.1:p.Ser608Asn
NM_000336.2:c.1904G>A	NP_000327.2:p.Ser635Asn
XM_011545913.1:c.1937G>A	XP_011544215.1:p.Ser646Asn
XM_011545914.1:c.1922G>A	XP_011544216.1:p.Ser641Asn
XM_011545913.2:c.1937G>A	XP_011544215.1:p.Ser646Asn
XM_017023525.1:c.1961G>A	XP_016879014.1:p.Ser654Asn
XM_017023526.1:c.1853G>A	XP_016879015.1:p.Ser618Asn
NM_000336.3:c.1904G>A MANE Select	NP_000327.2:p.Ser635Asn