Canonical Allele Identifier: CA7959464

Gene: SCNN1G

Linked Data

• ClinVar Variation Id: 318345
• ClinVar RCV Id: RCV000287935 ; RCV000382328
• dbSNP Id: rs762522517
• ExAC: 16:23197570 G / A
• gnomAD v2: 16-23197570-G-A
• gnomAD v3: 16-23186249-G-A
• gnomAD v4: 16-23186249-G-A
• MyVariant Identifiers: chr16:g.23197570G>A (hg19) ; chr16:g.23186249G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23186249G>A , CM000678.2:g.23186249G>A	GRCh38
NC_000016.9:g.23197570G>A , CM000678.1:g.23197570G>A	GRCh37
NC_000016.8:g.23105071G>A	NCBI36
NG_011909.1:g.8531G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.-23G>A MANE Select	ENSP00000300061.2:n.-23G>A
ENST00000300061.2:c.-23G>A	ENSP00000300061.2:n.-23G>A
NM_001039.3:c.-23G>A	NP_001030.2:n.-23G>A
NM_001039.4:c.-23G>A MANE Select	NP_001030.2:n.-23G>A