Canonical Allele Identifier: CA383559060

Gene: SCNN1A

Linked Data

• MyVariant Identifiers: chr12:g.6483533C>A (hg19) ; chr12:g.6374367C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6374367C>A , CM000674.2:g.6374367C>A	GRCh38
NC_000012.11:g.6483533C>A , CM000674.1:g.6483533C>A	GRCh37
NC_000012.10:g.6353794C>A	NCBI36
NG_011945.1:g.7991G>T
NG_033039.1:g.4000C>A
NG_011945.2:g.7991G>T
NG_033039.2:g.4000C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228916.7:c.416+1G>T MANE Select	ENSP00000228916.2:n.416+1G>T
ENST00000228916.6:c.416+1G>T	ENSP00000228916.2:n.416+1G>T
ENST00000338748.9:c.416+1G>T	ENSP00000345028.5:n.416+1G>T
ENST00000360168.7:c.593+1G>T	ENSP00000353292.3:n.593+1G>T
ENST00000396966.6:c.416+1G>T	ENSP00000380166.2:n.416+1G>T
ENST00000536176.1:n.497+1G>T
ENST00000538979.5:n.82+986G>T
ENST00000543585.1:n.553G>T
ENST00000543768.1:c.485+1G>T	ENSP00000438739.1:n.485+1G>T
ENST00000544882.1:n.420+1G>T
NM_001038.5:c.416+1G>T	NP_001029.1:n.416+1G>T
NM_001159575.1:c.485+1G>T	NP_001153047.1:n.485+1G>T
NM_001159576.1:c.593+1G>T	NP_001153048.1:n.593+1G>T
NM_001038.6:c.416+1G>T MANE Select	NP_001029.1:n.416+1G>T
NM_001159576.2:c.593+1G>T	NP_001153048.1:n.593+1G>T
NM_001159575.2:c.485+1G>T	NP_001153047.1:n.485+1G>T