Canonical Allele Identifier: CA279467730

Gene: SCNN1G

Linked Data

• dbSNP Id: rs927758728
• gnomAD v3: 16-23211244-T-C
• gnomAD v4: 16-23211244-T-C
• MyVariant Identifiers: chr16:g.23222565T>C (hg19) ; chr16:g.23211244T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23211244T>C , CM000678.2:g.23211244T>C	GRCh38
NC_000016.9:g.23222565T>C , CM000678.1:g.23222565T>C	GRCh37
NC_000016.8:g.23130066T>C	NCBI36
NG_011909.1:g.33526T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.1177-790T>C MANE Select	ENSP00000300061.2:n.1177-790T>C
ENST00000300061.2:c.1177-790T>C	ENSP00000300061.2:n.1177-790T>C
NM_001039.3:c.1177-790T>C	NP_001030.2:n.1177-790T>C
NM_001039.4:c.1177-790T>C MANE Select	NP_001030.2:n.1177-790T>C