Canonical Allele Identifier: CA7960554

Gene: SCNN1B

Linked Data

• ClinVar Variation Id: 318440
• ClinVar RCV Id: RCV000294815 ; RCV000317498 ; RCV000372180 ; RCV002520996
• dbSNP Id: rs138784278
• ExAC: 16:23391462 G / A
• gnomAD v2: 16-23391462-G-A
• gnomAD v3: 16-23380141-G-A
• gnomAD v4: 16-23380141-G-A
• COSMIC: COSM4059388 ; COSM4059389
• MyVariant Identifiers: chr16:g.23391462G>A (hg19) ; chr16:g.23380141G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23380141G>A , CM000678.2:g.23380141G>A	GRCh38
NC_000016.9:g.23391462G>A , CM000678.1:g.23391462G>A	GRCh37
NC_000016.8:g.23298963G>A	NCBI36
NG_011908.1:g.82872G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343070.7:c.1514G>A MANE Select	ENSP00000345751.2:p.Arg505His
ENST00000307331.9:c.1649G>A	ENSP00000302874.5:p.Arg550His
ENST00000343070.6:c.1514G>A	ENSP00000345751.2:p.Arg505His
ENST00000564275.5:c.*519G>A	ENSP00000457754.1:n.*519G>A
ENST00000568085.5:c.1406G>A	ENSP00000455673.1:p.Arg469His
ENST00000568923.5:c.1433G>A	ENSP00000456309.1:p.Arg478His
NM_000336.2:c.1514G>A	NP_000327.2:p.Arg505His
XM_011545913.1:c.1547G>A	XP_011544215.1:p.Arg516His
XM_011545914.1:c.1532G>A	XP_011544216.1:p.Arg511His
XM_011545913.2:c.1547G>A	XP_011544215.1:p.Arg516His
XM_017023525.1:c.1571G>A	XP_016879014.1:p.Arg524His
XM_017023526.1:c.1463G>A	XP_016879015.1:p.Arg488His
NM_000336.3:c.1514G>A MANE Select	NP_000327.2:p.Arg505His