Canonical Allele Identifier: CA494459712
Gene: SCNN1G HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.23226562C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23215241C>T , CM000678.2:g.23215241C>T GRCh38
NC_000016.9:g.23226562C>T , CM000678.1:g.23226562C>T GRCh37
NC_000016.8:g.23134063C>T NCBI36
NG_011909.1:g.37523C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000300061.3:c.1722C>T MANE Select ENSP00000300061.2:p.Ala574=
ENST00000300061.2:c.1722C>T ENSP00000300061.2:p.Ala574=
NM_001039.3:c.1722C>T NP_001030.2:p.Ala574=
NM_001039.4:c.1722C>T MANE Select NP_001030.2:p.Ala574=
Search 100 bp 5'
Search 100 bp 3'