Canonical Allele Identifier: CA7959457

Gene: SCNN1G

Linked Data

• ClinVar Variation Id: 318343
• ClinVar RCV Id: RCV000321774 ; RCV000376481 ; RCV001540327
• dbSNP Id: rs5731
• ExAC: 16:23197545 C / G
• gnomAD v2: 16-23197545-C-G
• gnomAD v3: 16-23186224-C-G
• gnomAD v4: 16-23186224-C-G
• MyVariant Identifiers: chr16:g.23197545C>G (hg19) ; chr16:g.23186224C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23186224C>G , CM000678.2:g.23186224C>G	GRCh38
NC_000016.9:g.23197545C>G , CM000678.1:g.23197545C>G	GRCh37
NC_000016.8:g.23105046C>G	NCBI36
NG_011909.1:g.8506C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.-44-4C>G MANE Select	ENSP00000300061.2:n.-44-4C>G
ENST00000300061.2:c.-44-4C>G	ENSP00000300061.2:n.-44-4C>G
NM_001039.3:c.-44-4C>G	NP_001030.2:n.-44-4C>G
NM_001039.4:c.-44-4C>G MANE Select	NP_001030.2:n.-44-4C>G