Canonical Allele Identifier: CA621322467

Gene: SCNN1G

Linked Data

• dbSNP Id: rs1248497573
• gnomAD v2: 16-23222535-CA-C
• gnomAD v3: 16-23211214-CA-C
• gnomAD v4: 16-23211214-CA-C
• MyVariant Identifiers: chr16:g.23222536del (hg19) ; chr16:g.23211215del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23211217del , CM000678.2:g.23211217del	GRCh38
NC_000016.9:g.23222538del , CM000678.1:g.23222538del	GRCh37
NC_000016.8:g.23130039del	NCBI36
NG_011909.1:g.33499del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.1177-817del MANE Select	ENSP00000300061.2:n.1177-817del
ENST00000300061.2:c.1177-817del	ENSP00000300061.2:n.1177-817del
NM_001039.3:c.1177-817del	NP_001030.2:n.1177-817del
NM_001039.4:c.1177-817del MANE Select	NP_001030.2:n.1177-817del