Canonical Allele Identifier: CA382776618

Gene: SCN4B

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118137097G>T , CM000673.2:g.118137097G>T	GRCh38
NC_000011.9:g.118007812G>T , CM000673.1:g.118007812G>T	GRCh37
NC_000011.8:g.117513022G>T	NCBI36
NG_011710.1:g.20819C>A , LRG_330:g.20819C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.617C>A MANE Select	ENSP00000322460.4:p.Ser206Ter
ENST00000324727.8:c.617C>A	ENSP00000322460.4:p.Ser206Ter
ENST00000415030.6:n.760C>A
ENST00000423160.2:n.251C>A
ENST00000529878.1:c.215C>A	ENSP00000436343.1:p.Ser72Ter
ENST00000531550.1:n.682C>A
NM_001142348.1:c.215C>A	NP_001135820.1:p.Ser72Ter
NM_001142349.1:c.287C>A	NP_001135821.1:p.Ser96Ter
NM_174934.3:c.617C>A , LRG_330t1:c.617C>A	NP_777594.1:p.Ser206Ter
NR_024527.1:n.642C>A
NM_001142348.2:c.215C>A	NP_001135820.1:p.Ser72Ter
NM_001142349.2:c.287C>A	NP_001135821.1:p.Ser96Ter
NR_024527.2:n.606C>A
NM_174934.4:c.617C>A MANE Select	NP_777594.1:p.Ser206Ter