Canonical Allele Identifier: CA6300085

Gene: SCN4B

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118136504dup , CM000673.2:g.118136504dup	GRCh38
NC_000011.9:g.118007219dup , CM000673.1:g.118007219dup	GRCh37
NC_000011.8:g.117512429dup	NCBI36
NG_011710.1:g.21413dup , LRG_330:g.21413dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.*524dup MANE Select	ENSP00000322460.4:n.*524dup
ENST00000324727.8:c.*524dup	ENSP00000322460.4:n.*524dup
ENST00000415030.6:n.1354dup
ENST00000423160.2:n.845dup
NM_001142348.1:c.*524dup	NP_001135820.1:n.*524dup
NM_001142349.1:c.*524dup	NP_001135821.1:n.*524dup
NM_174934.3:c.*524dup , LRG_330t1:c.*524dup	NP_777594.1:n.*524dup
NR_024527.1:n.1236dup
NM_001142348.2:c.*524dup	NP_001135820.1:n.*524dup
NM_001142349.2:c.*524dup	NP_001135821.1:n.*524dup
NR_024527.2:n.1200dup
NM_174934.4:c.*524dup MANE Select	NP_777594.1:n.*524dup