Canonical Allele Identifier: CA14343315
Gene: SCNN1B HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.23301864G>A
GRCh37 chr16:g.23313185G>A
gnomAD v2:
16:23313185 G / A
gnomAD v3:
16:23301864 G / A
gnomAD v4:
chr16-23301864-G-A
Joint Max Group AF 0.3641697 (AFR)
Genomes Max Group AF 0.3641697 (AFR)
ClinVar RCV:
RCV001617328
ClinVar Variation:
1233203
dbSNP:
34241435
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23301864G>A , CM000678.2:g.23301864G>A GRCh38
NC_000016.9:g.23313185G>A , CM000678.1:g.23313185G>A GRCh37
NC_000016.8:g.23220686G>A NCBI36
NG_011908.1:g.4595G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000569789.1:n.178+18060G>A
XM_017023525.1:c.49+18060G>A XP_016879014.1:n.49+18060G>A
XM_017023526.1:c.49+18060G>A XP_016879015.1:n.49+18060G>A
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