Canonical Allele Identifier: CA382778516

Gene: SCN4B

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118145068C>T , CM000673.2:g.118145068C>T	GRCh38
NC_000011.9:g.118015783C>T , CM000673.1:g.118015783C>T	GRCh37
NC_000011.8:g.117520993C>T	NCBI36
NG_011710.1:g.12848G>A , LRG_330:g.12848G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_174934.4:c.223G>A MANE Select	NP_777594.1:p.Ala75Thr
ENST00000324727.9:c.223G>A MANE Select	ENSP00000322460.4:p.Ala75Thr
NM_001142348.1:c.62-3732G>A	NP_001135820.1:n.62-3732G>A
NM_001142348.2:c.62-3732G>A	NP_001135820.1:n.62-3732G>A
NM_001142349.1:c.-108G>A	NP_001135821.1:n.-108G>A
NM_001142349.2:c.-108G>A	NP_001135821.1:n.-108G>A
NM_174934.3:c.223G>A , LRG_330t1:c.223G>A	NP_777594.1:p.Ala75Thr
NR_024527.1:n.402G>A
NR_024527.2:n.366G>A
ENST00000324727.8:c.223G>A	ENSP00000322460.4:p.Ala75Thr
ENST00000415030.6:n.366G>A
ENST00000529878.1:c.62-3732G>A	ENSP00000436343.1:n.62-3732G>A
ENST00000532138.1:n.633G>A