Canonical Allele Identifier: CA7960385

Gene: SCNN1B

Linked Data

• ClinVar Variation Id: 318432
• ClinVar RCV Id: RCV000285007 ; RCV000340036 ; RCV000397823 ; RCV000713383
• dbSNP Id: rs61729788
• ExAC: 16:23387068 C / T
• gnomAD v2: 16-23387068-C-T
• gnomAD v3: 16-23375747-C-T
• gnomAD v4: 16-23375747-C-T
• MyVariant Identifiers: chr16:g.23387068C>T (hg19) ; chr16:g.23375747C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23375747C>T , CM000678.2:g.23375747C>T	GRCh38
NC_000016.9:g.23387068C>T , CM000678.1:g.23387068C>T	GRCh37
NC_000016.8:g.23294569C>T	NCBI36
NG_011908.1:g.78478C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000343070.7:c.1162C>T MANE Select	ENSP00000345751.2:p.Arg388Cys
ENST00000307331.9:c.1297C>T	ENSP00000302874.5:p.Arg433Cys
ENST00000343070.6:c.1162C>T	ENSP00000345751.2:p.Arg388Cys
ENST00000564275.5:c.*167C>T	ENSP00000457754.1:n.*167C>T
ENST00000568085.5:c.1054C>T	ENSP00000455673.1:p.Arg352Cys
ENST00000568923.5:c.1081C>T	ENSP00000456309.1:p.Arg361Cys
NM_000336.2:c.1162C>T	NP_000327.2:p.Arg388Cys
XM_011545913.1:c.1195C>T	XP_011544215.1:p.Arg399Cys
XM_011545914.1:c.1180C>T	XP_011544216.1:p.Arg394Cys
XM_011545913.2:c.1195C>T	XP_011544215.1:p.Arg399Cys
XM_017023525.1:c.1219C>T	XP_016879014.1:p.Arg407Cys
XM_017023526.1:c.1111C>T	XP_016879015.1:p.Arg371Cys
NM_000336.3:c.1162C>T MANE Select	NP_000327.2:p.Arg388Cys