Canonical Allele Identifier: CA477355766

Gene: SCN4B

Linked Data

• gnomAD v4: 11-118143739-A-G
• MyVariant Identifiers: chr11:g.118014454A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118143739A>G , CM000673.2:g.118143739A>G	GRCh38
NC_000011.9:g.118014454A>G , CM000673.1:g.118014454A>G	GRCh37
NC_000011.8:g.117519664A>G	NCBI36
NG_011710.1:g.14177T>C , LRG_330:g.14177T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.463+94T>C MANE Select	ENSP00000322460.4:n.463+94T>C
ENST00000324727.8:c.463+94T>C	ENSP00000322460.4:n.463+94T>C
ENST00000415030.6:n.606+94T>C
ENST00000529878.1:c.62-2403T>C	ENSP00000436343.1:n.62-2403T>C
ENST00000532138.1:n.719+248T>C
NM_001142348.1:c.62-2403T>C	NP_001135820.1:n.62-2403T>C
NM_001142349.1:c.133+94T>C	NP_001135821.1:n.133+94T>C
NM_174934.3:c.463+94T>C , LRG_330t1:c.463+94T>C	NP_777594.1:n.463+94T>C
NR_024527.1:n.488+248T>C
NM_001142348.2:c.62-2403T>C	NP_001135820.1:n.62-2403T>C
NM_001142349.2:c.133+94T>C	NP_001135821.1:n.133+94T>C
NR_024527.2:n.452+248T>C
NM_174934.4:c.463+94T>C MANE Select	NP_777594.1:n.463+94T>C