Canonical Allele Identifier: CA279467745
Gene: SCNN1G HGNC NCBI

Linked Data

dbSNP Id: rs565609800
gnomAD v3: 16-23211262-C-T
gnomAD v4: 16-23211262-C-T
MyVariant Identifiers: chr16:g.23222583C>T (hg19) chr16:g.23211262C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23211262C>T , CM000678.2:g.23211262C>T GRCh38
NC_000016.9:g.23222583C>T , CM000678.1:g.23222583C>T GRCh37
NC_000016.8:g.23130084C>T NCBI36
NG_011909.1:g.33544C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300061.3:c.1177-772C>T MANE Select ENSP00000300061.2:n.1177-772C>T
ENST00000300061.2:c.1177-772C>T ENSP00000300061.2:n.1177-772C>T
NM_001039.3:c.1177-772C>T NP_001030.2:n.1177-772C>T
NM_001039.4:c.1177-772C>T MANE Select NP_001030.2:n.1177-772C>T
Search 100 bp 5'
Search 100 bp 3'