Canonical Allele Identifier: CA2213233060
Gene: SCNN1G HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23211490C= , CM000678.2:g.23211490C= GRCh38
NC_000016.9:g.23222811C= , CM000678.1:g.23222811C= GRCh37
NC_000016.8:g.23130312C= NCBI36
NG_011909.1:g.33772C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000300061.3:c.1177-544C= MANE Select ENSP00000300061.2:n.1177-544C=
ENST00000300061.2:c.1177-544C= ENSP00000300061.2:n.1177-544C=
NM_001039.3:c.1177-544C= NP_001030.2:n.1177-544C=
NM_001039.4:c.1177-544C= MANE Select NP_001030.2:n.1177-544C=
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