Canonical Allele Identifier: CA7959583

Gene: SCNN1G

Linked Data

• ClinVar Variation Id: 318349
• ClinVar RCV Id: RCV000302328 ; RCV000407520 ; RCV003417993
• dbSNP Id: rs145602271
• ExAC: 16:23200851 G / A
• gnomAD v2: 16-23200851-G-A
• gnomAD v3: 16-23189530-G-A
• gnomAD v4: 16-23189530-G-A
• MyVariant Identifiers: chr16:g.23200851G>A (hg19) ; chr16:g.23189530G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23189530G>A , CM000678.2:g.23189530G>A	GRCh38
NC_000016.9:g.23200851G>A , CM000678.1:g.23200851G>A	GRCh37
NC_000016.8:g.23108352G>A	NCBI36
NG_011909.1:g.11812G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.477G>A MANE Select	ENSP00000300061.2:p.Pro159=
ENST00000300061.2:c.477G>A	ENSP00000300061.2:p.Pro159=
NM_001039.3:c.477G>A	NP_001030.2:p.Pro159=
NM_001039.4:c.477G>A MANE Select	NP_001030.2:p.Pro159=