Canonical Allele Identifier: CA382778111

Gene: SCN4B

Linked Data

• MyVariant Identifiers: chr11:g.118014638C>A (hg19) ; chr11:g.118143923C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118143923C>A , CM000673.2:g.118143923C>A	GRCh38
NC_000011.9:g.118014638C>A , CM000673.1:g.118014638C>A	GRCh37
NC_000011.8:g.117519848C>A	NCBI36
NG_011710.1:g.13993G>T , LRG_330:g.13993G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.373G>T MANE Select	ENSP00000322460.4:p.Asp125Tyr
ENST00000324727.8:c.373G>T	ENSP00000322460.4:p.Asp125Tyr
ENST00000415030.6:n.516G>T
ENST00000529878.1:c.62-2587G>T	ENSP00000436343.1:n.62-2587G>T
ENST00000532138.1:n.719+64G>T
NM_001142348.1:c.62-2587G>T	NP_001135820.1:n.62-2587G>T
NM_001142349.1:c.43G>T	NP_001135821.1:p.Asp15Tyr
NM_174934.3:c.373G>T , LRG_330t1:c.373G>T	NP_777594.1:p.Asp125Tyr
NR_024527.1:n.488+64G>T
NM_001142348.2:c.62-2587G>T	NP_001135820.1:n.62-2587G>T
NM_001142349.2:c.43G>T	NP_001135821.1:p.Asp15Tyr
NR_024527.2:n.452+64G>T
NM_174934.4:c.373G>T MANE Select	NP_777594.1:p.Asp125Tyr