Canonical Allele Identifier: CA7960198

Gene: SCNN1B

Linked Data

• ClinVar Variation Id: 318424
• ClinVar RCV Id: RCV000304551 ; RCV000345224 ; RCV000401503
• dbSNP Id: rs371098444
• ExAC: 16:23366605 T / C
• gnomAD v2: 16-23366605-T-C
• gnomAD v3: 16-23355284-T-C
• gnomAD v4: 16-23355284-T-C
• MyVariant Identifiers: chr16:g.23366605T>C (hg19) ; chr16:g.23355284T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23355284T>C , CM000678.2:g.23355284T>C	GRCh38
NC_000016.9:g.23366605T>C , CM000678.1:g.23366605T>C	GRCh37
NC_000016.8:g.23274106T>C	NCBI36
NG_011908.1:g.58015T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343070.7:c.586-15T>C MANE Select	ENSP00000345751.2:n.586-15T>C
ENST00000307331.9:c.721-15T>C	ENSP00000302874.5:n.721-15T>C
ENST00000343070.6:c.586-15T>C	ENSP00000345751.2:n.586-15T>C
ENST00000564275.5:c.586-15T>C	ENSP00000457754.1:n.586-15T>C
ENST00000568085.5:c.586-15T>C	ENSP00000455673.1:n.586-15T>C
ENST00000568923.5:c.586-96T>C	ENSP00000456309.1:n.586-96T>C
NM_000336.2:c.586-15T>C	NP_000327.2:n.586-15T>C
XM_011545913.1:c.619-15T>C	XP_011544215.1:n.619-15T>C
XM_011545914.1:c.604-15T>C	XP_011544216.1:n.604-15T>C
XM_011545913.2:c.619-15T>C	XP_011544215.1:n.619-15T>C
XM_017023525.1:c.643-15T>C	XP_016879014.1:n.643-15T>C
XM_017023526.1:c.643-15T>C	XP_016879015.1:n.643-15T>C
NM_000336.3:c.586-15T>C MANE Select	NP_000327.2:n.586-15T>C