Canonical Allele Identifier: CA232350192

Gene: SCNN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6354111G>A , CM000674.2:g.6354111G>A	GRCh38
NC_000012.11:g.6463277G>A , CM000674.1:g.6463277G>A	GRCh37
NC_000012.10:g.6333538G>A	NCBI36
NG_011945.1:g.28247C>T
NG_011945.2:g.28247C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228916.7:c.1360+327C>T MANE Select	ENSP00000228916.2:n.1360+327C>T
ENST00000228916.6:c.1360+327C>T	ENSP00000228916.2:n.1360+327C>T
ENST00000338748.9:c.*431+327C>T	ENSP00000345028.5:n.*431+327C>T
ENST00000360168.7:c.1537+327C>T	ENSP00000353292.3:n.1537+327C>T
ENST00000366131.6:n.383-224C>T
ENST00000396966.6:c.1360+327C>T	ENSP00000380166.2:n.1360+327C>T
ENST00000457871.2:n.112+327C>T
ENST00000540037.5:c.460+327C>T	ENSP00000440876.1:n.460+327C>T
ENST00000543768.1:c.1429+327C>T	ENSP00000438739.1:n.1429+327C>T
NM_001038.5:c.1360+327C>T	NP_001029.1:n.1360+327C>T
NM_001159575.1:c.1429+327C>T	NP_001153047.1:n.1429+327C>T
NM_001159576.1:c.1537+327C>T	NP_001153048.1:n.1537+327C>T
XR_001748984.1:n.553+917G>A
NM_001038.6:c.1360+327C>T MANE Select	NP_001029.1:n.1360+327C>T
NM_001159576.2:c.1537+327C>T	NP_001153048.1:n.1537+327C>T
NM_001159575.2:c.1429+327C>T	NP_001153047.1:n.1429+327C>T