Canonical Allele Identifier: CA7959946
Gene: SCNN1G HGNC NCBI

Linked Data

dbSNP Id: rs752590787
ExAC: 16:23226463 C / T
gnomAD v2: 16-23226463-C-T
gnomAD v4: 16-23215142-C-T
MyVariant Identifiers: chr16:g.23226463C>T (hg19) chr16:g.23215142C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23215142C>T , CM000678.2:g.23215142C>T GRCh38
NC_000016.9:g.23226463C>T , CM000678.1:g.23226463C>T GRCh37
NC_000016.8:g.23133964C>T NCBI36
NG_011909.1:g.37424C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000300061.3:c.1623C>T MANE Select ENSP00000300061.2:p.Cys541=
ENST00000300061.2:c.1623C>T ENSP00000300061.2:p.Cys541=
NM_001039.3:c.1623C>T NP_001030.2:p.Cys541=
NM_001039.4:c.1623C>T MANE Select NP_001030.2:p.Cys541=
Search 100 bp 5'
Search 100 bp 3'