Canonical Allele Identifier: CA975678197
Gene: SCNN1G HGNC NCBI

Linked Data

gnomAD v3: 16-23211423-ACTTAT-A
gnomAD v4: 16-23211423-ACTTAT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23211427_23211431del , CM000678.2:g.23211427_23211431del GRCh38
NC_000016.9:g.23222748_23222752del , CM000678.1:g.23222748_23222752del GRCh37
NC_000016.8:g.23130249_23130253del NCBI36
NG_011909.1:g.33709_33713del

Transcript Alleles

HGVS Amino-acid Change
ENST00000300061.3:c.1177-607_1177-603del MANE Select ENSP00000300061.2:n.1177-607_1177-603del
ENST00000300061.2:c.1177-607_1177-603del ENSP00000300061.2:n.1177-607_1177-603del
NM_001039.3:c.1177-607_1177-603del NP_001030.2:n.1177-607_1177-603del
NM_001039.4:c.1177-607_1177-603del MANE Select NP_001030.2:n.1177-607_1177-603del
Search 100 bp 5'
Search 100 bp 3'