Canonical Allele Identifier: CA6300079

Gene: SCN4B

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118136357C>A , CM000673.2:g.118136357C>A	GRCh38
NC_000011.9:g.118007072C>A , CM000673.1:g.118007072C>A	GRCh37
NC_000011.8:g.117512282C>A	NCBI36
NG_011710.1:g.21559G>T , LRG_330:g.21559G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_174934.4:c.*670G>T MANE Select	NP_777594.1:n.*670G>T
ENST00000324727.9:c.*670G>T MANE Select	ENSP00000322460.4:n.*670G>T
NM_001142348.1:c.*670G>T	NP_001135820.1:n.*670G>T
NM_001142348.2:c.*670G>T	NP_001135820.1:n.*670G>T
NM_001142349.1:c.*670G>T	NP_001135821.1:n.*670G>T
NM_001142349.2:c.*670G>T	NP_001135821.1:n.*670G>T
NM_174934.3:c.*670G>T , LRG_330t1:c.*670G>T	NP_777594.1:n.*670G>T
NR_024527.1:n.1382G>T
NR_024527.2:n.1346G>T
ENST00000324727.8:c.*670G>T	ENSP00000322460.4:n.*670G>T
ENST00000415030.6:n.1500G>T
ENST00000423160.2:n.991G>T