Canonical Allele Identifier: CA2213233055
Gene: SCNN1G HGNC NCBI

Linked Data

dbSNP Id: rs1960078228
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23211481C>G , CM000678.2:g.23211481C>G GRCh38
NC_000016.9:g.23222802C>G , CM000678.1:g.23222802C>G GRCh37
NC_000016.8:g.23130303C>G NCBI36
NG_011909.1:g.33763C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000300061.3:c.1177-553C>G MANE Select ENSP00000300061.2:n.1177-553C>G
ENST00000300061.2:c.1177-553C>G ENSP00000300061.2:n.1177-553C>G
NM_001039.3:c.1177-553C>G NP_001030.2:n.1177-553C>G
NM_001039.4:c.1177-553C>G MANE Select NP_001030.2:n.1177-553C>G
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