Canonical Allele Identifier: CA2617254264

Gene: SCNN1A

Linked Data

• gnomAD v4: 12-6374344-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6374344G>A , CM000674.2:g.6374344G>A	GRCh38
NC_000012.11:g.6483510G>A , CM000674.1:g.6483510G>A	GRCh37
NC_000012.10:g.6353771G>A	NCBI36
NG_011945.1:g.8014C>T
NG_033039.1:g.3977G>A
NG_011945.2:g.8014C>T
NG_033039.2:g.3977G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228916.7:c.416+24C>T MANE Select	ENSP00000228916.2:n.416+24C>T
ENST00000228916.6:c.416+24C>T	ENSP00000228916.2:n.416+24C>T
ENST00000338748.9:c.416+24C>T	ENSP00000345028.5:n.416+24C>T
ENST00000360168.7:c.593+24C>T	ENSP00000353292.3:n.593+24C>T
ENST00000396966.6:c.416+24C>T	ENSP00000380166.2:n.416+24C>T
ENST00000536176.1:n.497+24C>T
ENST00000538979.5:n.82+1009C>T
ENST00000543768.1:c.485+24C>T	ENSP00000438739.1:n.485+24C>T
ENST00000544882.1:n.420+24C>T
NM_001038.5:c.416+24C>T	NP_001029.1:n.416+24C>T
NM_001159575.1:c.485+24C>T	NP_001153047.1:n.485+24C>T
NM_001159576.1:c.593+24C>T	NP_001153048.1:n.593+24C>T
XR_931590.1:n.2926G>A
XR_931590.2:n.2982G>A
NM_001038.6:c.416+24C>T MANE Select	NP_001029.1:n.416+24C>T
NM_001159576.2:c.593+24C>T	NP_001153048.1:n.593+24C>T
NM_001159575.2:c.485+24C>T	NP_001153047.1:n.485+24C>T