Canonical Allele Identifier: CA7959909

Gene: SCNN1G

Linked Data

• ClinVar Variation Id: 451433
• ClinVar RCV Id: RCV000519048 ; RCV000764039
• dbSNP Id: rs144653364
• ExAC: 16:23226089 T / C
• gnomAD v2: 16-23226089-T-C
• gnomAD v3: 16-23214768-T-C
• gnomAD v4: 16-23214768-T-C
• MyVariant Identifiers: chr16:g.23226089T>C (hg19) ; chr16:g.23214768T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23214768T>C , CM000678.2:g.23214768T>C	GRCh38
NC_000016.9:g.23226089T>C , CM000678.1:g.23226089T>C	GRCh37
NC_000016.8:g.23133590T>C	NCBI36
NG_011909.1:g.37050T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.1550T>C MANE Select	ENSP00000300061.2:p.Met517Thr
ENST00000300061.2:c.1550T>C	ENSP00000300061.2:p.Met517Thr
NM_001039.3:c.1550T>C	NP_001030.2:p.Met517Thr
NM_001039.4:c.1550T>C MANE Select	NP_001030.2:p.Met517Thr