Canonical Allele Identifier: CA7959981

Gene: SCNN1G

Linked Data

• ClinVar Variation Id: 318360
• ClinVar RCV Id: RCV000345193 ; RCV000398385 ; RCV002522829 ; RCV003969899
• dbSNP Id: rs745715995
• ExAC: 16:23226667 G / C
• gnomAD v2: 16-23226667-G-C
• gnomAD v3: 16-23215346-G-C
• gnomAD v4: 16-23215346-G-C
• MyVariant Identifiers: chr16:g.23226667G>C (hg19) ; chr16:g.23215346G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23215346G>C , CM000678.2:g.23215346G>C	GRCh38
NC_000016.9:g.23226667G>C , CM000678.1:g.23226667G>C	GRCh37
NC_000016.8:g.23134168G>C	NCBI36
NG_011909.1:g.37628G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.1827G>C MANE Select	ENSP00000300061.2:p.Leu609Phe
ENST00000300061.2:c.1827G>C	ENSP00000300061.2:p.Leu609Phe
NM_001039.3:c.1827G>C	NP_001030.2:p.Leu609Phe
NM_001039.4:c.1827G>C MANE Select	NP_001030.2:p.Leu609Phe