Canonical Allele Identifier: CA6300200

Gene: SCN4B

Linked Data

• dbSNP Id: rs759686521
• ExAC: 11:118014498 C / T
• MyVariant Identifiers: chr11:g.118014498C>T (hg19) ; chr11:g.118143783C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118143783C>T , CM000673.2:g.118143783C>T	GRCh38
NC_000011.9:g.118014498C>T , CM000673.1:g.118014498C>T	GRCh37
NC_000011.8:g.117519708C>T	NCBI36
NG_011710.1:g.14133G>A , LRG_330:g.14133G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.463+50G>A MANE Select	ENSP00000322460.4:n.463+50G>A
ENST00000324727.8:c.463+50G>A	ENSP00000322460.4:n.463+50G>A
ENST00000415030.6:n.606+50G>A
ENST00000529878.1:c.62-2447G>A	ENSP00000436343.1:n.62-2447G>A
ENST00000532138.1:n.719+204G>A
NM_001142348.1:c.62-2447G>A	NP_001135820.1:n.62-2447G>A
NM_001142349.1:c.133+50G>A	NP_001135821.1:n.133+50G>A
NM_174934.3:c.463+50G>A , LRG_330t1:c.463+50G>A	NP_777594.1:n.463+50G>A
NR_024527.1:n.488+204G>A
NM_001142348.2:c.62-2447G>A	NP_001135820.1:n.62-2447G>A
NM_001142349.2:c.133+50G>A	NP_001135821.1:n.133+50G>A
NR_024527.2:n.452+204G>A
NM_174934.4:c.463+50G>A MANE Select	NP_777594.1:n.463+50G>A