Canonical Allele Identifier: CA621322782
Gene: SCNN1G HGNC NCBI

Linked Data

dbSNP Id: rs1165379656
gnomAD v2: 16-23222852-G-A
gnomAD v3: 16-23211531-G-A
gnomAD v4: 16-23211531-G-A
MyVariant Identifiers: chr16:g.23222852G>A (hg19) chr16:g.23211531G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23211531G>A , CM000678.2:g.23211531G>A GRCh38
NC_000016.9:g.23222852G>A , CM000678.1:g.23222852G>A GRCh37
NC_000016.8:g.23130353G>A NCBI36
NG_011909.1:g.33813G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300061.3:c.1177-503G>A MANE Select ENSP00000300061.2:n.1177-503G>A
ENST00000300061.2:c.1177-503G>A ENSP00000300061.2:n.1177-503G>A
NM_001039.3:c.1177-503G>A NP_001030.2:n.1177-503G>A
NM_001039.4:c.1177-503G>A MANE Select NP_001030.2:n.1177-503G>A
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