Canonical Allele Identifier: CA2213233058
Gene: SCNN1G HGNC NCBI

Linked Data

dbSNP Id: rs1186784515
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23211490C>T , CM000678.2:g.23211490C>T GRCh38
NC_000016.9:g.23222811C>T , CM000678.1:g.23222811C>T GRCh37
NC_000016.8:g.23130312C>T NCBI36
NG_011909.1:g.33772C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300061.3:c.1177-544C>T MANE Select ENSP00000300061.2:n.1177-544C>T
ENST00000300061.2:c.1177-544C>T ENSP00000300061.2:n.1177-544C>T
NM_001039.3:c.1177-544C>T NP_001030.2:n.1177-544C>T
NM_001039.4:c.1177-544C>T MANE Select NP_001030.2:n.1177-544C>T
Search 100 bp 5'
Search 100 bp 3'