Canonical Allele Identifier: CA382776689

Gene: SCN4B

Linked Data

• MyVariant Identifiers: chr11:g.118007834T>G (hg19) ; chr11:g.118137119T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118137119T>G , CM000673.2:g.118137119T>G	GRCh38
NC_000011.9:g.118007834T>G , CM000673.1:g.118007834T>G	GRCh37
NC_000011.8:g.117513044T>G	NCBI36
NG_011710.1:g.20797A>C , LRG_330:g.20797A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.595A>C MANE Select	ENSP00000322460.4:p.Lys199Gln
ENST00000324727.8:c.595A>C	ENSP00000322460.4:p.Lys199Gln
ENST00000415030.6:n.738A>C
ENST00000423160.2:n.229A>C
ENST00000529878.1:c.193A>C	ENSP00000436343.1:p.Lys65Gln
ENST00000531550.1:n.660A>C
NM_001142348.1:c.193A>C	NP_001135820.1:p.Lys65Gln
NM_001142349.1:c.265A>C	NP_001135821.1:p.Lys89Gln
NM_174934.3:c.595A>C , LRG_330t1:c.595A>C	NP_777594.1:p.Lys199Gln
NR_024527.1:n.620A>C
NM_001142348.2:c.193A>C	NP_001135820.1:p.Lys65Gln
NM_001142349.2:c.265A>C	NP_001135821.1:p.Lys89Gln
NR_024527.2:n.584A>C
NM_174934.4:c.595A>C MANE Select	NP_777594.1:p.Lys199Gln