Canonical Allele Identifier: CA382778060

Gene: SCN4B

Linked Data

• MyVariant Identifiers: chr11:g.118014623T>A (hg19) ; chr11:g.118143908T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118143908T>A , CM000673.2:g.118143908T>A	GRCh38
NC_000011.9:g.118014623T>A , CM000673.1:g.118014623T>A	GRCh37
NC_000011.8:g.117519833T>A	NCBI36
NG_011710.1:g.14008A>T , LRG_330:g.14008A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.388A>T MANE Select	ENSP00000322460.4:p.Thr130Ser
ENST00000324727.8:c.388A>T	ENSP00000322460.4:p.Thr130Ser
ENST00000415030.6:n.531A>T
ENST00000529878.1:c.62-2572A>T	ENSP00000436343.1:n.62-2572A>T
ENST00000532138.1:n.719+79A>T
NM_001142348.1:c.62-2572A>T	NP_001135820.1:n.62-2572A>T
NM_001142349.1:c.58A>T	NP_001135821.1:p.Thr20Ser
NM_174934.3:c.388A>T , LRG_330t1:c.388A>T	NP_777594.1:p.Thr130Ser
NR_024527.1:n.488+79A>T
NM_001142348.2:c.62-2572A>T	NP_001135820.1:n.62-2572A>T
NM_001142349.2:c.58A>T	NP_001135821.1:p.Thr20Ser
NR_024527.2:n.452+79A>T
NM_174934.4:c.388A>T MANE Select	NP_777594.1:p.Thr130Ser