Canonical Allele Identifier: CA7960675

Gene: SCNN1B

Linked Data

• ClinVar Variation Id: 318447
• ClinVar RCV Id: RCV000297058 ; RCV000354087 ; RCV000399722 ; RCV002522834 ; RCV002520998
• dbSNP Id: rs776613953
• ExAC: 16:23392099 G / C
• gnomAD v2: 16-23392099-G-C
• gnomAD v3: 16-23380778-G-C
• gnomAD v4: 16-23380778-G-C
• MyVariant Identifiers: chr16:g.23392099G>C (hg19) ; chr16:g.23380778G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23380778G>C , CM000678.2:g.23380778G>C	GRCh38
NC_000016.9:g.23392099G>C , CM000678.1:g.23392099G>C	GRCh37
NC_000016.8:g.23299600G>C	NCBI36
NG_011908.1:g.83509G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343070.7:c.1900G>C MANE Select	ENSP00000345751.2:p.Asp634His
ENST00000307331.9:c.2035G>C	ENSP00000302874.5:p.Asp679His
ENST00000343070.6:c.1900G>C	ENSP00000345751.2:p.Asp634His
ENST00000564275.5:c.*905G>C	ENSP00000457754.1:n.*905G>C
ENST00000568085.5:c.1792G>C	ENSP00000455673.1:p.Asp598His
ENST00000568923.5:c.1819G>C	ENSP00000456309.1:p.Asp607His
NM_000336.2:c.1900G>C	NP_000327.2:p.Asp634His
XM_011545913.1:c.1933G>C	XP_011544215.1:p.Asp645His
XM_011545914.1:c.1918G>C	XP_011544216.1:p.Asp640His
XM_011545913.2:c.1933G>C	XP_011544215.1:p.Asp645His
XM_017023525.1:c.1957G>C	XP_016879014.1:p.Asp653His
XM_017023526.1:c.1849G>C	XP_016879015.1:p.Asp617His
NM_000336.3:c.1900G>C MANE Select	NP_000327.2:p.Asp634His