Canonical Allele Identifier: CA477355817

Gene: SCN4B

Linked Data

• MyVariant Identifiers: chr11:g.118014648C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118143933C>G , CM000673.2:g.118143933C>G	GRCh38
NC_000011.9:g.118014648C>G , CM000673.1:g.118014648C>G	GRCh37
NC_000011.8:g.117519858C>G	NCBI36
NG_011710.1:g.13983G>C , LRG_330:g.13983G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000324727.9:c.363G>C MANE Select	ENSP00000322460.4:p.Leu121=
ENST00000324727.8:c.363G>C	ENSP00000322460.4:p.Leu121=
ENST00000415030.6:n.506G>C
ENST00000529878.1:c.62-2597G>C	ENSP00000436343.1:n.62-2597G>C
ENST00000532138.1:n.719+54G>C
NM_001142348.1:c.62-2597G>C	NP_001135820.1:n.62-2597G>C
NM_001142349.1:c.33G>C	NP_001135821.1:p.Leu11=
NM_174934.3:c.363G>C , LRG_330t1:c.363G>C	NP_777594.1:p.Leu121=
NR_024527.1:n.488+54G>C
NM_001142348.2:c.62-2597G>C	NP_001135820.1:n.62-2597G>C
NM_001142349.2:c.33G>C	NP_001135821.1:p.Leu11=
NR_024527.2:n.452+54G>C
NM_174934.4:c.363G>C MANE Select	NP_777594.1:p.Leu121=