Canonical Allele Identifier: CA382778063

Gene: SCN4B

Linked Data

• MyVariant Identifiers: chr11:g.118014624G>C (hg19) ; chr11:g.118143909G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118143909G>C , CM000673.2:g.118143909G>C	GRCh38
NC_000011.9:g.118014624G>C , CM000673.1:g.118014624G>C	GRCh37
NC_000011.8:g.117519834G>C	NCBI36
NG_011710.1:g.14007C>G , LRG_330:g.14007C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.387C>G MANE Select	ENSP00000322460.4:p.Tyr129Ter
ENST00000324727.8:c.387C>G	ENSP00000322460.4:p.Tyr129Ter
ENST00000415030.6:n.530C>G
ENST00000529878.1:c.62-2573C>G	ENSP00000436343.1:n.62-2573C>G
ENST00000532138.1:n.719+78C>G
NM_001142348.1:c.62-2573C>G	NP_001135820.1:n.62-2573C>G
NM_001142349.1:c.57C>G	NP_001135821.1:p.Tyr19Ter
NM_174934.3:c.387C>G , LRG_330t1:c.387C>G	NP_777594.1:p.Tyr129Ter
NR_024527.1:n.488+78C>G
NM_001142348.2:c.62-2573C>G	NP_001135820.1:n.62-2573C>G
NM_001142349.2:c.57C>G	NP_001135821.1:p.Tyr19Ter
NR_024527.2:n.452+78C>G
NM_174934.4:c.387C>G MANE Select	NP_777594.1:p.Tyr129Ter