Canonical Allele Identifier: CA621320396
Gene: SCNN1G HGNC NCBI

Linked Data

dbSNP Id: rs1402347412
gnomAD v2: 16-23208138-GGGA-G
gnomAD v3: 16-23196817-GGGA-G
gnomAD v4: 16-23196817-GGGA-G
MyVariant Identifiers: chr16:g.23208139_23208141del (hg19) chr16:g.23196818_23196820del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23196822_23196824del , CM000678.2:g.23196822_23196824del GRCh38
NC_000016.9:g.23208143_23208145del , CM000678.1:g.23208143_23208145del GRCh37
NC_000016.8:g.23115644_23115646del NCBI36
NG_011909.1:g.19104_19106del

Transcript Alleles

HGVS Amino-acid change
ENST00000300061.3:c.914-442_914-440del MANE Select ENSP00000300061.2:n.914-442_914-440del
ENST00000300061.2:c.914-442_914-440del ENSP00000300061.2:n.914-442_914-440del
NM_001039.3:c.914-442_914-440del NP_001030.2:n.914-442_914-440del
NM_001039.4:c.914-442_914-440del MANE Select NP_001030.2:n.914-442_914-440del
Search 100 bp 5'
Search 100 bp 3'