Canonical Allele Identifier: CA279467724

Gene: SCNN1G

Linked Data

• dbSNP Id: rs532013249
• gnomAD v2: 16-23222563-A-G
• gnomAD v3: 16-23211242-A-G
• gnomAD v4: 16-23211242-A-G
• MyVariant Identifiers: chr16:g.23222563A>G (hg19) ; chr16:g.23211242A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23211242A>G , CM000678.2:g.23211242A>G	GRCh38
NC_000016.9:g.23222563A>G , CM000678.1:g.23222563A>G	GRCh37
NC_000016.8:g.23130064A>G	NCBI36
NG_011909.1:g.33524A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.1177-792A>G MANE Select	ENSP00000300061.2:n.1177-792A>G
ENST00000300061.2:c.1177-792A>G	ENSP00000300061.2:n.1177-792A>G
NM_001039.3:c.1177-792A>G	NP_001030.2:n.1177-792A>G
NM_001039.4:c.1177-792A>G MANE Select	NP_001030.2:n.1177-792A>G