Canonical Allele Identifier: CA395103528
Gene: SCNN1G HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.23226559G>C (hg19) chr16:g.23215238G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23215238G>C , CM000678.2:g.23215238G>C GRCh38
NC_000016.9:g.23226559G>C , CM000678.1:g.23226559G>C GRCh37
NC_000016.8:g.23134060G>C NCBI36
NG_011909.1:g.37520G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000300061.3:c.1719G>C MANE Select ENSP00000300061.2:p.Trp573Cys
ENST00000300061.2:c.1719G>C ENSP00000300061.2:p.Trp573Cys
NM_001039.3:c.1719G>C NP_001030.2:p.Trp573Cys
NM_001039.4:c.1719G>C MANE Select NP_001030.2:p.Trp573Cys
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