Canonical Allele Identifier: CA382778139

Gene: SCN4B

Linked Data

• MyVariant Identifiers: chr11:g.118014645C>A (hg19) ; chr11:g.118143930C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118143930C>A , CM000673.2:g.118143930C>A	GRCh38
NC_000011.9:g.118014645C>A , CM000673.1:g.118014645C>A	GRCh37
NC_000011.8:g.117519855C>A	NCBI36
NG_011710.1:g.13986G>T , LRG_330:g.13986G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.366G>T MANE Select	ENSP00000322460.4:p.Glu122Asp
ENST00000324727.8:c.366G>T	ENSP00000322460.4:p.Glu122Asp
ENST00000415030.6:n.509G>T
ENST00000529878.1:c.62-2594G>T	ENSP00000436343.1:n.62-2594G>T
ENST00000532138.1:n.719+57G>T
NM_001142348.1:c.62-2594G>T	NP_001135820.1:n.62-2594G>T
NM_001142349.1:c.36G>T	NP_001135821.1:p.Glu12Asp
NM_174934.3:c.366G>T , LRG_330t1:c.366G>T	NP_777594.1:p.Glu122Asp
NR_024527.1:n.488+57G>T
NM_001142348.2:c.62-2594G>T	NP_001135820.1:n.62-2594G>T
NM_001142349.2:c.36G>T	NP_001135821.1:p.Glu12Asp
NR_024527.2:n.452+57G>T
NM_174934.4:c.366G>T MANE Select	NP_777594.1:p.Glu122Asp