Canonical Allele Identifier: CA382777438

Gene: SCN4B

Linked Data

• dbSNP Id: rs1555097085
• MyVariant Identifiers: chr11:g.118011938T>A (hg19) ; chr11:g.118141223T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141223T>A , CM000673.2:g.118141223T>A	GRCh38
NC_000011.9:g.118011938T>A , CM000673.1:g.118011938T>A	GRCh37
NC_000011.8:g.117517148T>A	NCBI36
NG_011710.1:g.16693A>T , LRG_330:g.16693A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.577A>T MANE Select	ENSP00000322460.4:p.Lys193Ter
ENST00000324727.8:c.577A>T	ENSP00000322460.4:p.Lys193Ter
ENST00000415030.6:n.720A>T
ENST00000423160.2:n.211A>T
ENST00000529878.1:c.175A>T	ENSP00000436343.1:p.Lys59Ter
ENST00000531550.1:n.642A>T
ENST00000532138.1:n.833A>T
NM_001142348.1:c.175A>T	NP_001135820.1:p.Lys59Ter
NM_001142349.1:c.247A>T	NP_001135821.1:p.Lys83Ter
NM_174934.3:c.577A>T , LRG_330t1:c.577A>T	NP_777594.1:p.Lys193Ter
NR_024527.1:n.602A>T
NM_001142348.2:c.175A>T	NP_001135820.1:p.Lys59Ter
NM_001142349.2:c.247A>T	NP_001135821.1:p.Lys83Ter
NR_024527.2:n.566A>T
NM_174934.4:c.577A>T MANE Select	NP_777594.1:p.Lys193Ter