Canonical Allele Identifier: CA382777647

Gene: SCN4B

Linked Data

• MyVariant Identifiers: chr11:g.118012043C>A (hg19) ; chr11:g.118141328C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141328C>A , CM000673.2:g.118141328C>A	GRCh38
NC_000011.9:g.118012043C>A , CM000673.1:g.118012043C>A	GRCh37
NC_000011.8:g.117517253C>A	NCBI36
NG_011710.1:g.16588G>T , LRG_330:g.16588G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000324727.9:c.472G>T MANE Select	ENSP00000322460.4:p.Val158Leu
ENST00000324727.8:c.472G>T	ENSP00000322460.4:p.Val158Leu
ENST00000415030.6:n.615G>T
ENST00000423160.2:n.106G>T
ENST00000529878.1:c.70G>T	ENSP00000436343.1:p.Val24Leu
ENST00000531550.1:n.537G>T
ENST00000532138.1:n.728G>T
NM_001142348.1:c.70G>T	NP_001135820.1:p.Val24Leu
NM_001142349.1:c.142G>T	NP_001135821.1:p.Val48Leu
NM_174934.3:c.472G>T , LRG_330t1:c.472G>T	NP_777594.1:p.Val158Leu
NR_024527.1:n.497G>T
NM_001142348.2:c.70G>T	NP_001135820.1:p.Val24Leu
NM_001142349.2:c.142G>T	NP_001135821.1:p.Val48Leu
NR_024527.2:n.461G>T
NM_174934.4:c.472G>T MANE Select	NP_777594.1:p.Val158Leu