Canonical Allele Identifier: CA494459720
Gene: SCNN1G HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.23226571G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23215250G>A , CM000678.2:g.23215250G>A GRCh38
NC_000016.9:g.23226571G>A , CM000678.1:g.23226571G>A GRCh37
NC_000016.8:g.23134072G>A NCBI36
NG_011909.1:g.37532G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000300061.3:c.1731G>A MANE Select ENSP00000300061.2:p.Gln577=
ENST00000300061.2:c.1731G>A ENSP00000300061.2:p.Gln577=
NM_001039.3:c.1731G>A NP_001030.2:p.Gln577=
NM_001039.4:c.1731G>A MANE Select NP_001030.2:p.Gln577=
Search 100 bp 5'
Search 100 bp 3'