Canonical Allele Identifier: CA7960385
Gene: SCNN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 318432
dbSNP Id: rs61729788

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