Canonical Allele Identifier: CA2632290431

Gene: SCNN1G

Linked Data

• gnomAD v4: 16-23196665-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23196665C>T , CM000678.2:g.23196665C>T	GRCh38
NC_000016.9:g.23207986C>T , CM000678.1:g.23207986C>T	GRCh37
NC_000016.8:g.23115487C>T	NCBI36
NG_011909.1:g.18947C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000300061.3:c.914-599C>T MANE Select	ENSP00000300061.2:n.914-599C>T
ENST00000300061.2:c.914-599C>T	ENSP00000300061.2:n.914-599C>T
NM_001039.3:c.914-599C>T	NP_001030.2:n.914-599C>T
NM_001039.4:c.914-599C>T MANE Select	NP_001030.2:n.914-599C>T