Canonical Allele Identifier: CA2213232862
Gene: SCNN1G HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23211214C= , CM000678.2:g.23211214C= GRCh38
NC_000016.9:g.23222535C= , CM000678.1:g.23222535C= GRCh37
NC_000016.8:g.23130036C= NCBI36
NG_011909.1:g.33496C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000300061.3:c.1177-820C= MANE Select ENSP00000300061.2:n.1177-820C=
ENST00000300061.2:c.1177-820C= ENSP00000300061.2:n.1177-820C=
NM_001039.3:c.1177-820C= NP_001030.2:n.1177-820C=
NM_001039.4:c.1177-820C= MANE Select NP_001030.2:n.1177-820C=
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