Canonical Allele Identifier: CA2525926202
Gene: SCNN1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23211372A>G , CM000678.2:g.23211372A>G GRCh38
NC_000016.9:g.23222693A>G , CM000678.1:g.23222693A>G GRCh37
NC_000016.8:g.23130194A>G NCBI36
NG_011909.1:g.33654A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000300061.3:c.1177-662A>G MANE Select ENSP00000300061.2:n.1177-662A>G
ENST00000300061.2:c.1177-662A>G ENSP00000300061.2:n.1177-662A>G
NM_001039.3:c.1177-662A>G NP_001030.2:n.1177-662A>G
NM_001039.4:c.1177-662A>G MANE Select NP_001030.2:n.1177-662A>G