Canonical Allele Identifier: CA6300183

Gene: SCN4B

Linked Data

• dbSNP Id: rs753607059
• ExAC: 11:118012013 C / T
• gnomAD v2: 11-118012013-C-T
• MyVariant Identifiers: chr11:g.118012013C>T (hg19) ; chr11:g.118141298C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141298C>T , CM000673.2:g.118141298C>T	GRCh38
NC_000011.9:g.118012013C>T , CM000673.1:g.118012013C>T	GRCh37
NC_000011.8:g.117517223C>T	NCBI36
NG_011710.1:g.16618G>A , LRG_330:g.16618G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.502G>A MANE Select	ENSP00000322460.4:p.Ala168Thr
ENST00000324727.8:c.502G>A	ENSP00000322460.4:p.Ala168Thr
ENST00000415030.6:n.645G>A
ENST00000423160.2:n.136G>A
ENST00000529878.1:c.100G>A	ENSP00000436343.1:p.Ala34Thr
ENST00000531550.1:n.567G>A
ENST00000532138.1:n.758G>A
NM_001142348.1:c.100G>A	NP_001135820.1:p.Ala34Thr
NM_001142349.1:c.172G>A	NP_001135821.1:p.Ala58Thr
NM_174934.3:c.502G>A , LRG_330t1:c.502G>A	NP_777594.1:p.Ala168Thr
NR_024527.1:n.527G>A
NM_001142348.2:c.100G>A	NP_001135820.1:p.Ala34Thr
NM_001142349.2:c.172G>A	NP_001135821.1:p.Ala58Thr
NR_024527.2:n.491G>A
NM_174934.4:c.502G>A MANE Select	NP_777594.1:p.Ala168Thr