Canonical Allele Identifier: CA7960255

Gene: SCNN1B

Linked Data

• ClinVar Variation Id: 227060
• ClinVar RCV Id: RCV000220924 ; RCV000275967 ; RCV000316419 ; RCV000371088 ; RCV000891755 ; RCV003937814
• dbSNP Id: rs61759915
• ExAC: 16:23379172 T / C
• gnomAD v2: 16-23379172-T-C
• gnomAD v3: 16-23367851-T-C
• gnomAD v4: 16-23367851-T-C
• MyVariant Identifiers: chr16:g.23379172T>C (hg19) ; chr16:g.23367851T>C (hg38)
• PubMed: PMID:19462466 ; PMID:25900089

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23367851T>C , CM000678.2:g.23367851T>C	GRCh38
NC_000016.9:g.23379172T>C , CM000678.1:g.23379172T>C	GRCh37
NC_000016.8:g.23286673T>C	NCBI36
NG_011908.1:g.70582T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000343070.7:c.777-5T>C MANE Select	ENSP00000345751.2:n.777-5T>C
ENST00000307331.9:c.912-5T>C	ENSP00000302874.5:n.912-5T>C
ENST00000343070.6:c.777-5T>C	ENSP00000345751.2:n.777-5T>C
ENST00000564275.5:c.777-3448T>C	ENSP00000457754.1:n.777-3448T>C
ENST00000566441.2:c.74-5T>C
ENST00000568085.5:c.777-5T>C	ENSP00000455673.1:n.777-5T>C
ENST00000568923.5:c.696-5T>C	ENSP00000456309.1:n.696-5T>C
NM_000336.2:c.777-5T>C	NP_000327.2:n.777-5T>C
XM_011545913.1:c.810-5T>C	XP_011544215.1:n.810-5T>C
XM_011545914.1:c.795-5T>C	XP_011544216.1:n.795-5T>C
XM_011545913.2:c.810-5T>C	XP_011544215.1:n.810-5T>C
XM_017023525.1:c.834-5T>C	XP_016879014.1:n.834-5T>C
XM_017023526.1:c.834-5T>C	XP_016879015.1:n.834-5T>C
NM_000336.3:c.777-5T>C MANE Select	NP_000327.2:n.777-5T>C